rubinstein taybi omim
Mais recente
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New insights into genetic variant spectrum and genotype–phenotype
14 maio 2024 -
High frequency of copy number imbalances in Rubinstein–Taybi
14 maio 2024 -
Clinical and molecular findings of the six patients with Rubinstein
14 maio 2024 -
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
14 maio 2024 -
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
14 maio 2024 -
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
14 maio 2024 -
PDF) Rubinstein-Taybi syndrome: Dental manifestations and management
14 maio 2024 -
Rubinstein-Taybi Syndrome: A Rare Case Report
14 maio 2024 -
Rubinstein–Taybi syndrome European Journal of Human Genetics
14 maio 2024 -
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
14 maio 2024 -
Congenital glaucoma as a presenting feature of Rubinstein-Taybi
14 maio 2024 -
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
14 maio 2024 -
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
14 maio 2024 -
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
14 maio 2024 -
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
14 maio 2024 -
Exon deletions of the EP300 and CREBBP genes in two children with
14 maio 2024 -
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
14 maio 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
14 maio 2024 -
Rubinstein-Taybi Syndrome - an overview
14 maio 2024 -
About - DECIPHER v11.23
14 maio 2024
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