Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 21 setembro 2024
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Filippi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Recombinant Human CREB-binding protein(CREBBP),partial - Cusabio
Lysine Acetylation and Deacetylation in Brain Development and Neuropathies - ScienceDirect
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