The Rubinstein-Taybi syndrome. Archives of Disease in Childhood
Por um escritor misterioso
Descrição
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
Rubinstein-Taybi Syndrome
Rubinstein–Taybi syndrome European Journal of Human Genetics
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
PDF) Rubinstein-Taybi syndrome medical guidelines
Rubinstein-Taybi syndrome: Dental manifestations and management
First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library
Rubinstein-Taybi Syndrome: A case report
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
