Ontology highlight
ABSTRACT:
SUBMITTER: Imani S
PROVIDER: S-EPMC6438871 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Imani Saber S Cheng Jingliang J Fu Jiewen J Mobasher-Jannat Abdolkarim A Wei Chunli C Mohazzab-Torabi Saman S Jadidi Khosrow K Khosravi Mohammad Hossein MH Shasaltaneh Marzieh Dehghan MD Yang Lisha L Khan Md Asaduzzaman MA Fu Junjiang J
Bioscience reports 20190328 3
Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical co ...[more]