Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

BACKGROUND: To determine the genetic lesions and to modify the clinical diagnosis for a Chinese family with significant intrafamilial phenotypic diversities and unusual presentations. METHODS: Three affected patients and the asymptomatic father were included and received comprehensive systemic exami...

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Detalhes bibliográficos
Publicado no:J Transl Med
Main Authors: Sheng, Xunlun, Chen, Xue, Lei, Bo, Chen, Rui, Wang, Hui, Zhang, Fangxia, Rong, Weining, Ha, Ruoshui, Liu, Yani, Zhao, Feng, Yang, Peizeng, Zhao, Chen
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4455986/
https://ncbi.nlm.nih.gov/pubmed/26040324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-015-0534-9
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