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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2017
Aiheet:
Research Article
Linkit: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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