Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document
Por um escritor misterioso
Last updated 23 setembro 2024
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance, Molecular Cytogenetics
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype - ScienceDirect
Chromosome 16: Most Up-to-Date Encyclopedia, News & Reviews
Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four‐generation family - Mohamed - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library
A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation - Tokutomi - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library
M M Al-Qattan's research works King Saud University, Riyadh (KKUH) and other places
Rahbeeni ZUHAIR, King Faisal Specialist Hospital and Research Centre, Riyadh, KFSHRC, Medical Genetics Department
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
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