Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome
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 ...
BMC Genetics 2017 18:3
Published on: 19 January 2017