Rubinstein-Taybi syndrome in diverse populations.

C, Tekendo-Ngongang; B, Owosela; N, Fleischer; YA, Addissie; B, Malonga; E, Badoe; N, Gupta; A, Moresco; V, Huckstadt; EA, Ashaat; DF, Hussen; HM, Luk; IFM, Lo; Chung B, Hon-Yin; JLF, Fung; D, Moretti-Ferreira; LC, Batista; S, Lotz-Esquivel; M, Saborio-Rocafort; R, Badilla-Porras; Portmann M, Penon; KL, Jones; OA, Abdul-Rahman; A, Uwineza; EJ, Prijoles; IK, Ifeorah; Paneque A, Llamos; ND, Sirisena; L, Dowsett; S, Lee; G, Cappuccio; CS, Kitchin; A, Diaz-Kuan; MK, Thong; MG, Obregon; L, Mutesa; VHW, Dissanayake; Ruby MO, El; N, Brunetti-Pierri; EN, Ekure; RE, Stevenson; M, Muenke; P, Kruszka

doi:10.1002/ajmg.a.61888

Public

Rubinstein-Taybi syndrome in diverse populations.

Shared by NobleBlocks on Sep 27, 2020 • 12:00 AM UTC

Authors:

Tekendo-Ngongang C

Owosela B

Fleischer N

Abstract

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in in...

Subject

Asia

Africa

Latin America

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