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DOID DOID:0060549
Name Barber-Say syndrome
Definition 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.
https://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1, https://www.ncbi.nlm.nih.gov/pubmed/27196381
Xrefs

GARD:819

MESH:C537908

OMIM:209885

ORDO:1231

UMLS_CUI:C1319466

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