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TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

Intellectual disability (ID) with autosomal recessive (AR) inheritance is believed to be common; however, very little is known about causative genes and genotype–phenotype correlations. The broad genetic heterogeneity of AR-ID, and its usually nonsyndromic nature make it difficult to pool multiple p...

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Detalhes bibliográficos
Main Authors: Marangi, Giuseppe, Leuzzi, Vincenzo, Manti, Filippo, Lattante, Serena, Orteschi, Daniela, Pecile, Vanna, Neri, Giovanni, Zollino, Marcella
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548258/
https://ncbi.nlm.nih.gov/pubmed/22549410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.79
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