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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Bibliografski detalji
Izdano u:BMC Genet
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2017
Teme:
Research Article
Online pristup: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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