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Barber-say syndrome: a confirmed case of TWIST2 gene mutation.
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Barber-say syndrome: a confirmed case of TWIST2 gene mutation.

Clin Case Rep. 2017 Jul;5(7):1167-1169

Authors: Yohannan MD, Hilgeman J, Allsbrook K

Abstract
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.

PMID: 28680619 [PubMed - in process]

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