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JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.
Journal of Pediatrics 2016 December
Ten girls with sporadic central precocious puberty were screened for mutations in the maternally imprinted gene MKRN3. We detected 1 novel frameshift mutation (p.Arg351Serfs*44) and a previously described mutation (p.Pro161Argfs*10). In the course of investigating the family, genetic analysis found 2 asymptomatic males with paternally inherited MKRN3 mutations, which has not been reported in previous studies.
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