RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated
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Rubinstein-Taybi Syndrome 1
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Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Dysmorphic and skeletal features of Rubinstein‐Taybi syndrome patients.
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Rubinstein–Taybi syndrome European Journal of Human Genetics
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Genes, Free Full-Text
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