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Rubinstein-Taybi syndrome
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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS
2005 |
2. lékařská fakulta
publication
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
2006 |
2. lékařská fakulta
publication
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense in codon 1175 of CREBBP
2002 |
2. lékařská fakulta
publication
Eva Seemanova 80 Years - International Medical Genetics, Prague 1971-2016
2019 |
2. lékařská fakulta