Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family

Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a “blended” phe...

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發表在:Mol Syndromol
Main Authors: Vona, Barbara, Maroofian, Reza, Mendiratta, Geetu, Croken, Matthew, Peng, Siwu, Ye, Xiaoqian, Rezazadeh, Jamileh, Bahena, Paulina, Lekszas, Caroline, Haaf, Thomas, Edelmann, Lisa, Shi, Lisong
格式: Artigo
語言:Inglês
出版: S. Karger AG 2017
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Original Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5803684/
https://ncbi.nlm.nih.gov/pubmed/29456477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000480458
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