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Find articles by Jung Min Ko. No potential conflict of interest relevant to this article was reported. Open in a separate window. Fluorescence in situ hybridization and polymerase chain reaction PCR analyses failed to detect the presence of SRY , and SOX9 intragenic mutation was not identified by direct sequencing analysis. RQ, relative quantification. A The genitalia photograph of the patient was taken at 4. Footnotes No potential conflict of interest relevant to this article was reported. Haploinsufficiency of SOX9 from the loss of function mutations or deletions results in campomelic dysplasia Online Mendelian Inheritance in Man , which is a well-known skeletal dysplasia showing congenital bowing of long bones with male-to-female sex reversal in two-thirds of affected individuals with 46,XY Address for correspondence. Levels of hydroxyl progesterone and dehydroepiandrosterone sulfate were within normal ranges. J Pediatr Endocrinol Metab. The parents provided formal informed consent to permit peripheral blood sampling for genetic testing, and the Institutional Review Board of Seoul National University Hospital approved this study. Whether you like masculine men or boyish cuteness, here are a few K-celebs under 20 that will make you drool. He showed normal external and internal male genitalia except for small testes.
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