Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Por um escritor misterioso
Last updated 22 fevereiro 2025
Genes, Free Full-Text
Syndromic X-Linked Intellectual Disability Nascimento Type disease
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
CREBBP Gene - GeneCards, CBP Protein
CREBBP Gene - GeneCards, CBP Protein
High frequency of copy number imbalances in Rubinstein–Taybi
Cutis Marmorata Telangiectatica Congenita disease: Malacards
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Genes, Free Full-Text
Syndactyly, Type Iii disease: Malacards - Research Articles, Drugs
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi syndrome: MedlinePlus Genetics
EP300 Gene - GeneCards, EP300 Protein
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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 Library22 fevereiro 2025 -
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Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A22 fevereiro 2025 -
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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics22 fevereiro 2025 -
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library22 fevereiro 2025
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