Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (A...

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Detalhes bibliográficos
Publicado no:BMC Genet
Main Authors: Haidar, Zahraa, Temanni, Ramzi, Chouery, Eliane, Jitesh, Puthen, Liu, Wei, Al-Ali, Rashid, Wang, Ena, Marincola, Francesco M, Jalkh, Nadine, Haddad, Soha, Haidar, Wassim, Chouchane, Lotfi, Mégarbané, André
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5244738/
https://ncbi.nlm.nih.gov/pubmed/28103792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12863-017-0471-0
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