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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2012
Témata:
Developmental Defects
On-line přístup: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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