Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Por um escritor misterioso
Last updated 17 outubro 2024
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. - Abstract - Europe PMC
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
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Congenital basis of posterior fossa anomalies. - Abstract - Europe PMC
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. - Abstract - Europe PMC
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. - Abstract - Europe PMC
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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