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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Mol Syndromol
Autori principali: Vona, Barbara, Maroofian, Reza, Mendiratta, Geetu, Croken, Matthew, Peng, Siwu, Ye, Xiaoqian, Rezazadeh, Jamileh, Bahena, Paulina, Lekszas, Caroline, Haaf, Thomas, Edelmann, Lisa, Shi, Lisong
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2017
Soggetti:
Original Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi