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Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

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Title: Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.
Authors: Civit A; Genetics Department, Tours University Hospital, Tours, France., Kerbellec L; Genetics Department, Tours University Hospital, Tours, France., Laurenceau D; Genetics Department, Tours University Hospital, Tours, France., Ung DC; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France., Moizard MP; Genetics Department, Tours University Hospital, Tours, France., Ronce N; Genetics Department, Tours University Hospital, Tours, France., Gueguen P; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France., Laumonnier F; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France., Bréhin AC; Department of Anatomy and Pathological Cytology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Marguet F; Department of Anatomy and Pathological Cytology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Laquerrière A; Univ Rouen Normandie, INSERM U1245, Team Epigenetics and Pathophysiology of Neurodevelopmental Disorders and Department of Pathology, Rouen University Hospital, Rouen, France., Bergemer Fouquet AM; Department of Anatomy and Pathological Cytology, Tours University Hospital, University of Tours, France., Cirier J; Department of Gynecology, Bourges Hospital, Bourges, France., Blesson S; Genetics Department, Tours University Hospital, Tours, France., Arpin S; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France., Jeanne M; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France., Vuillaume ML; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Mar; Vol. 200 (3), pp. 744-748. Date of Electronic Publication: 2025 Nov 13.
Publication Type: Case Reports; Journal Article
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
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.64301