Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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CBP Histone Acetyltransferase Activity Regulates Embryonic Neural Differentiation in the Normal and Rubinstein-Taybi Syndrome Brain: Developmental Cell
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: Presentation in the First Month of Life - The Journal of Pediatrics
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
IJMS, Free Full-Text
Rubinstein-Taybi syndrome (RTS)
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients - Spena - 2015 - Clinical Genetics - Wiley Online Library
PDF) Rubinstein-Taybi syndrome medical guidelines
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
JCI - Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome–like skeletal defects induced by Pdk1 or Cbp mutations in mice
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
IJMS, Free Full-Text
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