Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

Rubinstein–Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, o...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: de Vries, Tamar I, R Monroe, Glen, van Belzen, Martine J, van der Lans, Christian A, Savelberg, Sanne MC, Newman, William G, van Haaften, Gijs, Nievelstein, Rutger A, van Haelst, Mieke M
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989203/
https://ncbi.nlm.nih.gov/pubmed/26956253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.14
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