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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Библиографические подробности
Опубликовано в: :BMC Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2017
Предметы:
Research Article
Online-ссылка: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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