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Article

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

European journal of human genetics : EJHG - 1 Aug 2016

de Vries Tamar I, Monroe Glen R, 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

Abstract excerpt

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, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA...

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Source

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Identifiers

PMID: 26956253
DOI: 10.1038/ejhg.2016.14
PMCID: PMC4989203

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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