A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum

Tarih

Yazarlar

Mancilar, Hanifenur

Yesilyurt, Ahmet

Yayınevi

Anahtar kelimeler

Rubinstein\\-Taybi syndrome, CREBBP, Intragenic duplication, Copy number variation, Genotype\\-phenotype correlation

URI

https://openaccess.acibadem.edu.tr/handle/11443/4798

Koleksiyonlar

Tam öğe sayfası