A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

BACKGROUND: We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26. METHODS: In this manuscript, we have used whole exome sequencing on two affected members...

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Detalhes bibliográficos
Main Authors: Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3492204/
https://ncbi.nlm.nih.gov/pubmed/22587682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-27
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