Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

BACKGROUND AND AIM: Martin–Probst syndrome (MPS) is a rare X-linked disorder characterised by deafness, cognitive impairment, short stature and distinct craniofacial dysmorphisms, among other features. The authors sought to identify the causative mutation for MPS. METHODS AND RESULTS: Massively para...

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Detalhes bibliográficos
Main Authors: Bedoyan, Jirair Krikor, Schaibley, Valerie M, Peng, Weiping, Bai, Yongsheng, Mondal, Kajari, Shetty, Amol C, Durham, Mark, Micucci, Joseph A, Dhiraaj, Arti, Skidmore, Jennifer M, Kaplan, Julie B, Skinner, Cindy, Schwartz, Charles E, Antonellis, Anthony, Zwick, Michael E, Cavalcoli, James D, Li, Jun Z, Martin, Donna M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2012
Assuntos:
Developmental Defects
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3350147/
https://ncbi.nlm.nih.gov/pubmed/22581972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100575
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