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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Short Report
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki