First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:BMC Med Genet
Hlavní autoři: López, María, Seidel, Verónica, Santibáñez, Paula, Cervera-Acedo, Cristina, Castro-de Castro, Pedro, Domínguez-Garrido, Elena
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5154174/
https://ncbi.nlm.nih.gov/pubmed/27964710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0361-8
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky