Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
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DOI: 10.1038/s41431-018-0183-6
Abstract: 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… read more here.
Keywords: variants ciliary; ciliary gene; gene tmem67; tmem67 ... See more keywords