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- W2914580273 abstract "Abstract We present a case of a Chinese child with X‐linked Simpson–Golabi–Behmel syndrome (SGBS). To the best of our knowledge, this is the first report of 46,XY disorders of sex development (ambiguous genitalia, cryptorchidism, and uterus in the pelvis) in surviving SGBS patients. Other external anomalies included characteristic facial anomalies, overgrowth, macrocephaly, organomegaly, pectus excavatum, and cryptorchidism. It could be that the GPC3 gene mutation caused Leydig cell dysfunction in our patient. Disorders of sex development can be included as part of the clinical spectrum of SGBS." @default.
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- W2914580273 date "2019-01-22" @default.
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- W2914580273 title "Simpson–Golabi–Behmel syndrome with 46,XY disorders of sex development: A case report" @default.
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- W2914580273 doi "https://doi.org/10.1002/ajmg.a.40669" @default.
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