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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...

وصف كامل

محفوظ في:

التفاصيل البيبلوغرافية
الحاوية / القاعدة:	J Transl Med
المؤلفون الرئيسيون:	Sheng, Xunlun, Chen, Xue, Lei, Bo, Chen, Rui, Wang, Hui, Zhang, Fangxia, Rong, Weining, Ha, Ruoshui, Liu, Yani, Zhao, Feng, Yang, Peizeng, Zhao, Chen
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	BioMed Central 2015
الموضوعات:	Research
الوصول للمادة أونلاين:	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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Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

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