Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.
Saved in:
| 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 |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41230573 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Civit+A%22">Civit A</searchLink>; Genetics Department, Tours University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Kerbellec+L%22">Kerbellec L</searchLink>; Genetics Department, Tours University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Laurenceau+D%22">Laurenceau D</searchLink>; Genetics Department, Tours University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Ung+DC%22">Ung DC</searchLink>; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Moizard+MP%22">Moizard MP</searchLink>; Genetics Department, Tours University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Ronce+N%22">Ronce N</searchLink>; Genetics Department, Tours University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Gueguen+P%22">Gueguen P</searchLink>; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Laumonnier+F%22">Laumonnier F</searchLink>; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Bréhin+AC%22">Bréhin AC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Marguet+F%22">Marguet F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Laquerrière+A%22">Laquerrière A</searchLink>; Univ Rouen Normandie, INSERM U1245, Team Epigenetics and Pathophysiology of Neurodevelopmental Disorders and Department of Pathology, Rouen University Hospital, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Bergemer+Fouquet+AM%22">Bergemer Fouquet AM</searchLink>; Department of Anatomy and Pathological Cytology, Tours University Hospital, University of Tours, France.<br /><searchLink fieldCode="AU" term="%22Cirier+J%22">Cirier J</searchLink>; Department of Gynecology, Bourges Hospital, Bourges, France.<br /><searchLink fieldCode="AU" term="%22Blesson+S%22">Blesson S</searchLink>; Genetics Department, Tours University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Arpin+S%22">Arpin S</searchLink>; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Jeanne+M%22">Jeanne M</searchLink>; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Vuillaume+ML%22">Vuillaume ML</searchLink>; Genetics Department, Tours University Hospital, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Mar; Vol. 200 (3), pp. 744-748. <i>Date of Electronic Publication: </i>2025 Nov 13. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src 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 |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41230573 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.64301 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 744 Titles: – TitleFull: Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Civit A – PersonEntity: Name: NameFull: Kerbellec L – PersonEntity: Name: NameFull: Laurenceau D – PersonEntity: Name: NameFull: Ung DC – PersonEntity: Name: NameFull: Moizard MP – PersonEntity: Name: NameFull: Ronce N – PersonEntity: Name: NameFull: Gueguen P – PersonEntity: Name: NameFull: Laumonnier F – PersonEntity: Name: NameFull: Bréhin AC – PersonEntity: Name: NameFull: Marguet F – PersonEntity: Name: NameFull: Laquerrière A – PersonEntity: Name: NameFull: Bergemer Fouquet AM – PersonEntity: Name: NameFull: Cirier J – PersonEntity: Name: NameFull: Blesson S – PersonEntity: Name: NameFull: Arpin S – PersonEntity: Name: NameFull: Jeanne M – PersonEntity: Name: NameFull: Vuillaume ML IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2026 Mar Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 200 – Type: issue Value: 3 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
| ResultId | 1 |
