Article
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Archives of oral biology - 1 Jul 2016
Jelani Musharraf, Kang Changsoo, Mohamoud Hussein Sheikh Ali, Al-Rehaili Rayan, Almramhi Mona Mohammad, Serafi Rehab, Yang Huanming, Al-Aama Jumana Yousuf, Naeem Muhammad, Alkhiary Yaser Mohammad
Abstract excerpt
OBJECTIVES: The present study aimed to identify the genetic cause of non-syndromic primary failure of tooth eruption in a five-generation consanguineous Saudi family using whole-exome sequencing (WES) analysis. DESIGN: The family pedigree and phenotype were obtained from patient medical records. WES of all four affected family members was performed using the 51 Mb SureSelect V4 library kit and then sequenced...
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