CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infa...

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Detalles Bibliográficos
Autores principales: Sabbagh, Sandra, Antoun, Stephanie, Mégarbané, André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174947/
https://www.ncbi.nlm.nih.gov/pubmed/32328110
http://dx.doi.org/10.1155/2020/8795607

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