Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 19 setembro 2024
Clinical exome sequencing identifies novel CREBBP variants in 18
Mosaic CREBBP mutation causes overlapping clinical features of
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Further delineation of an entity caused by CREBBP and EP300
Chiari 1 malformation and exome sequencing in 51 trios: the
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
PDF) Multiple Dental and Skeletal Abnormalities in an Individual
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