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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63617 |
