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Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

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Title: Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
Authors: Susgun S; Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye., Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Rüschendorf F; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Ku B; Disease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Republic of Korea., Hussain SI; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan., Schulz S; Zentrum für Humangenetik, Tübingen, Germany., Puk O; Zentrum für Humangenetik, Tübingen, Germany., Biskup S; Zentrum für Humangenetik, Tübingen, Germany.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, Germany., Labonne JDJ; SalioGen Therapeutics, Lexington, MA, USA., Don DW; Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea., Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Choi TI; Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea., Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan., Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Germany.; Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Lacassie Y; Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, USA., Layman LC; Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA, USA., Ugur Iseri SA; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye., Kim CH; Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Source: Human mutation [Hum Mutat] 2024 Jan 05; Vol. 2024, pp. 5518289. Date of Electronic Publication: 2024 Jan 05 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
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  Data: <searchLink fieldCode="AU" term="%22Susgun+S%22">Susgun S</searchLink>; Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Ben-Mahmoud+A%22">Ben-Mahmoud A</searchLink>; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Rüschendorf+F%22">Rüschendorf F</searchLink>; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Ku+B%22">Ku B</searchLink>; Disease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Hussain+SI%22">Hussain SI</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.<br /><searchLink fieldCode="AU" term="%22Schulz+S%22">Schulz S</searchLink>; Zentrum für Humangenetik, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Puk+O%22">Puk O</searchLink>; Zentrum für Humangenetik, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Biskup+S%22">Biskup S</searchLink>; Zentrum für Humangenetik, Tübingen, Germany.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Labonne+JDJ%22">Labonne JDJ</searchLink>; SalioGen Therapeutics, Lexington, MA, USA.<br /><searchLink fieldCode="AU" term="%22Don+DW%22">Don DW</searchLink>; Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Gupta+V%22">Gupta V</searchLink>; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Choi+TI%22">Choi TI</searchLink>; Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Khan+S%22">Khan S</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.<br /><searchLink fieldCode="AU" term="%22Wasif+N%22">Wasif N</searchLink>; Institute of Human Genetics, University of Ulm, Ulm, Germany.; Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Lacassie+Y%22">Lacassie Y</searchLink>; Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, USA.<br /><searchLink fieldCode="AU" term="%22Layman+LC%22">Layman LC</searchLink>; Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Ugur+Iseri+SA%22">Ugur Iseri SA</searchLink>; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Kim+CH%22">Kim CH</searchLink>; Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+HG%22">Kim HG</searchLink>; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
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