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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

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Title: Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Authors: Fasham J; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Lin S; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Ghosh P; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy., Farrow EG; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Kussman J; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Zhou D; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Hemming R; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Zahka K; Pediatric Cardiology, Cleveland Clinic, Cleveland, OH., Chioza BA; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Rawlins LE; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Wenger OK; New Leaf Center, Clinic for Special Children, Mount Eaton, OH., Gunning AC; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy., Onesimo R; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS, Rome, Italy., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS, Rome, Italy., Barker E; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Osawa N; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Rodriguez MC; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Neuhann TM; MGZ Medical Genetics Centre, Munich, Germany., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Capasso J; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY., Levin AV; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY., Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Li D; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY., Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Wentzensen IM; GeneDx, Gaithersburg, MD., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Triggs-Raine B; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. Electronic address: barbara.triggs-raine@umanitoba.ca., Crosby AH; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. Electronic address: a.h.crosby@exeter.ac.uk., Baple EL; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. Electronic address: e.baple@exeter.ac.uk.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Mar; Vol. 24 (3), pp. 631-644. Date of Electronic Publication: 2021 Nov 30.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: <searchLink fieldCode="AU" term="%22Fasham+J%22">Fasham J</searchLink>; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ghosh+P%22">Ghosh P</searchLink>; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Radio+FC%22">Radio FC</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Farrow+EG%22">Farrow EG</searchLink>; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.<br /><searchLink fieldCode="AU" term="%22Kussman+J%22">Kussman J</searchLink>; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.<br /><searchLink fieldCode="AU" term="%22Zhou+D%22">Zhou D</searchLink>; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.<br /><searchLink fieldCode="AU" term="%22Hemming+R%22">Hemming R</searchLink>; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Zahka+K%22">Zahka K</searchLink>; Pediatric Cardiology, Cleveland Clinic, Cleveland, OH.<br /><searchLink fieldCode="AU" term="%22Chioza+BA%22">Chioza BA</searchLink>; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rawlins+LE%22">Rawlins LE</searchLink>; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wenger+OK%22">Wenger OK</searchLink>; New Leaf Center, Clinic for Special Children, Mount Eaton, OH.<br /><searchLink fieldCode="AU" term="%22Gunning+AC%22">Gunning AC</searchLink>; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pizzi+S%22">Pizzi S</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Onesimo+R%22">Onesimo R</searchLink>; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. 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