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). |
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| 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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| ISSN: | 1098-1004 |
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| DOI: | 10.1155/2024/5518289 |
