Article
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
BMC genetics - 19 Jan 2017
Haidar Zahraa, Temanni Ramzi, Chouery Eliane, Jithesh Puthen, Liu Wei, Al-Ali Rashid, Wang Ena, Marincola Francesco M, Jalkh Nadine, Haddad Soha, Haidar Wassim, Chouchane Lotfi, Mégarbané André
Abstract excerpt
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 (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin...
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