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Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.

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Title: Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.
Authors: M K; Department of Family and Pediatric Nursing, Wroclaw Medical University, Wroclaw, Poland., M R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., J B; Department of Radiology, Wroclaw 4th Military Clinical Hospital, Faculty of Medicine, Wroclaw University of Science and Technology, Wroclaw, Poland., A BI; Department of Paediatrics, Gastroenterology and Nutrition, Wroclaw Medical University, Wroclaw, Poland., K IP; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., R W; Department of Disorders of Hemostasis and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland., E O; Laboratory of Genetics in Hemostasis and Porphyria, Department of Hemostasis and Metabolic Disorders, Institute of Hematology and Transfusion Medicine, Warsaw, Poland., A ZK; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, Wroclaw, Poland., R S; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, Wroclaw, Poland., R P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63617. Date of Electronic Publication: 2024 Apr 03.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.
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  Data: <searchLink fieldCode="AU" term="%22M+K%22">M K</searchLink>; Department of Family and Pediatric Nursing, Wroclaw Medical University, Wroclaw, Poland.<br /><searchLink fieldCode="AU" term="%22M+R%22">M R</searchLink>; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22J+B%22">J B</searchLink>; Department of Radiology, Wroclaw 4th Military Clinical Hospital, Faculty of Medicine, Wroclaw University of Science and Technology, Wroclaw, Poland.<br /><searchLink fieldCode="AU" term="%22A+BI%22">A BI</searchLink>; Department of Paediatrics, Gastroenterology and Nutrition, Wroclaw Medical University, Wroclaw, Poland.<br /><searchLink fieldCode="AU" term="%22K+IP%22">K IP</searchLink>; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22R+W%22">R W</searchLink>; Department of Disorders of Hemostasis and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22E+O%22">E O</searchLink>; Laboratory of Genetics in Hemostasis and Porphyria, Department of Hemostasis and Metabolic Disorders, Institute of Hematology and Transfusion Medicine, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22A+ZK%22">A ZK</searchLink>; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, Wroclaw, Poland.<br /><searchLink fieldCode="AU" term="%22R+S%22">R S</searchLink>; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, Wroclaw, Poland.<br /><searchLink fieldCode="AU" term="%22R+P%22">R P</searchLink>; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63617. <i>Date of Electronic Publication: </i>2024 Apr 03.
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  Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.63617
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        Text: English
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      – TitleFull: Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.
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              Text: 2024 Aug
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