Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

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Last updated 23 maio 2024
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
Clinical exome sequencing identifies novel CREBBP variants in 18
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
Genes, Free Full-Text
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
Molecular analysis of the CBP gene in 60 patients with Rubinstein
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
PDF) Facial dysmorphism, skeletal anomalies, congenital glucoma
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
Genes, Free Full-Text
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
IJMS, Free Full-Text
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
PDF) Rubinstein-Taybi syndrome medical guidelines
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
PDF) Lacrimal drainage anomalies in Rubinstein-Taybi syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a  mild variant showing a missense mutation in codon 1175 of CREBBP
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