A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Here, by performing exome sequencing of a single affected individual and coupling the results to a...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2012
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257749/
https://ncbi.nlm.nih.gov/pubmed/22243968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.12.011
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker