Ontology highlight
ABSTRACT:
SUBMITTER: Cheng HH
PROVIDER: S-EPMC6739585 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Cheng Huan-Huan HH Ling Shi-Qi SQ Zhao Pei-Zhen PZ Li Wei-Li WL Deng Juan J
International journal of ophthalmology 20190918 9
The genovariation of endothelin receptor type B (<i>EDNRB</i>) was identified in a Chinese family with Waardenburg syndrome type I (WS1) in the present study. WS1 was diagnosed in a 19-year-old young man, his older sister and aunt according to WS consortium criteria. After extracting genomic DNA from the peripheral blood samples, the coding exons and intronic regions of <i>EDNRB</i> were sequenced. A missense heterozygous mutation was found in the coding region of exon 2 in the <i>EDNRB</i> gene ...[more]