Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity

BACKGROUND: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances, and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and geneti...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: R, Bachmann-Gagescu, JC, Dempsey, IG, Phelps, BJ, O’Roak, DM, Knutzen, TC, Rue, GE, Ishak, CR, Isabella, N, Gorden, J, Adkins, EA, Boyle, N, de Lacy, D, O’Day, A, Alswaid, AR, Devi, L, Lingappa, C, Lourenço, L, Martorell, À, Garcia-Cazorla, H, Ozyürek, G, Haliloğlu, B, Tuysuz, M, Topçu, P, Chance, MA, Parisi, I, Glass, J, Shendure, D, Doherty
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5082428/
https://ncbi.nlm.nih.gov/pubmed/26092869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103087
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados