Total: 1 |
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PMID (PMCID) | ||
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27087618 (5198008) |
MIXED_SAMPLE | Young Adult |
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. | ||
Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Krmzbekmez H. J Clin Res Pediatr Endocrinol. 2016;8(4):472-477. |
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Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females. |