Human genes for Barber-Say syndrome
Barber-Say syndrome [DOID:0060549]
A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
Synonyms: Barber-Say syndrome, BarberSay syndrome, Barber-Say disease, Barber-Say disorder, Barber-Say syndromes ...