c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome

c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome

Milena Barbosa Porto,1 Geovanna da Mata e Castro,1 Samara Socorro Silva Pereira,2 Elza Maria Gonçalves Santos Uchoa,2 Raffael Zatarin,3 Lysa Bernardes Minasi,1 Aparecido D da Cruz1– 3 1Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia...

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Bibliographic Details
Main Authors: Porto MB, Castro GDME, Pereira SSS, Uchoa EMGS, Zatarin R, Minasi LB, da Cruz AD
Format: Article
Language:English
Published: Dove Medical Press 2024-01-01
Series:International Medical Case Reports Journal
Subjects:
syt1
hypotonia
congenital malformations
ndd
wes
Online Access:https://www.dovepress.com/c1103tc-pile368th-de-novo-variant-in-synaptotagmin-1-syt1-gene-is-path-peer-reviewed-fulltext-article-IMCRJ

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https://www.dovepress.com/c1103tc-pile368th-de-novo-variant-in-synaptotagmin-1-syt1-gene-is-path-peer-reviewed-fulltext-article-IMCRJ

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