Article
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Clinical genetics - 1 Mar 2022
Enomoto Yumi, Yokoi Takayuki, Tsurusaki Yoshinori, Murakami Hiroaki, Tominaga Makiko, Minatogawa Mari, Abe-Hatano Chihiro, Kuroda Yukiko, Ohashi Ikuko, Ida Kazumi, Shiiya Shizuka, Kumaki Tatsuro, Naruto Takuya, Mitsui Jun, Harada Noriaki, Kido Yasuhiro, Kurosawa Kenji
Abstract excerpt
Rubinstein-Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad thumbs, and intellectual disability. CREB-binding protein (CREBBP) or E1A-binding protein P300 (EP300) are causative genes. To elucidate the underlying genetic and genomic architecture related to the RSTS phenotype, we performed comprehensive genetic analysis targeting CREBBP and/or EP300 in 22 clinically diagnosed patients....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.