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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Group 2012
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350147/
https://www.ncbi.nlm.nih.gov/pubmed/22581972
http://dx.doi.org/10.1136/jmedgenet-2011-100575

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