Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Por um escritor misterioso
Last updated 05 abril 2025


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Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel

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Characterization of 14 novel deletions underlying Rubinstein–Taybi

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome

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Rubinstein-Taybi Syndrome

PDF) Spectrum of CREBBP mutations in Indian patients with

Rubinstein–Taybi syndrome: clinical and molecular overview
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the
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