rubinstein taybi omim
Mais recente
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Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
10 junho 2024 -
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome
10 junho 2024 -
Rubinstein–Taybi syndrome in diverse populations - Tekendo
10 junho 2024 -
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
10 junho 2024 -
Genes, Free Full-Text
10 junho 2024 -
New insights into genetic variant spectrum and genotype–phenotype
10 junho 2024 -
Rubinstein-Taybi syndrome: Dental manifestations and management
10 junho 2024 -
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author
10 junho 2024 -
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
10 junho 2024 -
Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared
10 junho 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
10 junho 2024 -
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library
10 junho 2024 -
Rubinstein-Taybi syndrome: MedlinePlus Genetics
10 junho 2024 -
PDF) Rubinstein-Taybi syndrome medical guidelines
10 junho 2024 -
Rubinstein-Taybi Syndrome 1
10 junho 2024 -
High frequency of copy number imbalances in Rubinstein–Taybi
10 junho 2024 -
OMIM diseases as a function of associated HPO phenotypes. Data include
10 junho 2024 -
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
10 junho 2024 -
Rubinstein-Taybi syndrome - wikidoc
10 junho 2024 -
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
10 junho 2024
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