Chargement en cours...

The role of HCFC1 in syndromic and non-syndromic intellectual disability.

Mutations in the HCFC1 gene are associated with cases of syndromic (cblX) and non-syndromic intellectual disability. Syndromic individuals present with severe neurological defects including intractable epilepsy, facial dysmorphia, and intellectual disability. Non-syndromic individuals have also been...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Med Res Arch
Auteurs principaux: Castro, Victoria L., Quintana, Anita M.
Format: Artigo
Langue:Inglês
Publié: 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8218923/
https://ncbi.nlm.nih.gov/pubmed/34164576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18103/mra.v8i6.2122
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!