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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Makerere Medical School
2021
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Materias: | |
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 |