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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5244738/
https://www.ncbi.nlm.nih.gov/pubmed/28103792
http://dx.doi.org/10.1186/s12863-017-0471-0

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