A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation-Reference-Cited by-同舟云学术

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A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation

Published:2024-08 Issue:8 Volume:47 Page:3684-3685
ISSN:1015-9584
Container-title:Asian Journal of Surgery
language:en
Short-container-title:Asian Journal of Surgery

Author:

Li Zheng,Li Zi-Jin,Hao Li-Hong

Publisher

Elsevier BV

Reference5 articles.

1. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome;Rubinstein;Am J Dis Child,1960

2. Rubinstein-taybi syndrome: a model of epigenetic disorder;Van Gils;Genes,2021

3. A case report of rubinstein-taybi syndrome presenting with extensive keloid formation and review of literature;Kim;Ann Dermatol,2023

4. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP;Petrij;Nature,1995

5. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum;López;BMC Med Genet,2018

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