Open AccessBarber‐say syndrome: a confirmed case of TWIST2 gene mutation
Author(s) -
Yohannan Mulakkan David,
Hilgeman Jennifer,
Allsbrook Katlin
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1014
Subject(s) - medicine , hypertrichosis , mutation , genetics , genetic testing , gene , phenotype , genodermatosis , dermatology , bioinformatics , biology
Key Clinical Message Barber‐Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.