| H01934 | |
| H number | H01934 |
| Name | Barber-Say syndrome |
| Description | Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that BSS is due to mutations in TWIST2. |
| Category | Congenital malformation |
| Network | - |
| Gene | TWIST2 [HSA:117581] [KO:K09069] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.3 ICD-10: Q87.0 MeSH: C537908 OMIM: 209885 |
| Reference | PMID:26119818 AUTHORS Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC TITLE Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. JOURNAL Am J Hum Genet 97:99-110 (2015) DOI:10.1016/j.ajhg.2015.05.017 PMID:19760652 AUTHORS Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O TITLE Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. JOURNAL Am J Med Genet A 149A:2236-40 (2009) DOI:10.1002/ajmg.a.32993 |