Rubinstein–Taybi syndrome in diverse populations - Tekendo
Por um escritor misterioso
Last updated 29 maio 2024
PDF) Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report
Characteristic facial appearance with downward slant of palpebral
Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A
Rubinstein-Taybi syndrome due to CREBBP mutations (Concept Id: C4551859)
Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
a) Intraoral findings were a small mouth and malocclusion. (b) In
Profile of the microarray analysis showing the deleted region as
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