Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorp...

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Detalles Bibliográficos
Autores principales: Elalaoui, Siham Chafai, Smaili, Wiam, Van-Gils, Julien, Fergelot, Patricia, Ratbi, Ilham, Tajir, Mariam, Arveiler, Benoit, Lacombe, Didier, Sefiani, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Makerere Medical School 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8568211/
https://www.ncbi.nlm.nih.gov/pubmed/34795756
http://dx.doi.org/10.4314/ahs.v21i2.58

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8568211/
https://www.ncbi.nlm.nih.gov/pubmed/34795756
http://dx.doi.org/10.4314/ahs.v21i2.58

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