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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4455986/
https://www.ncbi.nlm.nih.gov/pubmed/26040324
http://dx.doi.org/10.1186/s12967-015-0534-9

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