Article
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
European journal of human genetics : EJHG - 1 Sept 2018
Brancati Francesco, Camerota Letizia, Colao Emma, Vega-Warner Virginia, Zhao Xiangzhong, Zhang Ruixiao, Bottillo Irene, Castori Marco, Caglioti Alfredo, Sangiuolo Federica, Novelli Giuseppe, Perrotti Nicola, Otto Edgar A
Abstract excerpt
A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for X-linked or recessive mode of inheritance. Up to now, the underlying genetic basis of RHYNS syndrome remains unknown. Here we applied whole-exome sequencing in...
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