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We elucidated the molecular basis of 17α-hydroxylase deficiency in a Chinese patient with male pseudohermaphroditism. The patient is a compound heterozygote, carrying two different mutant alleles in the CYP17 gene. The first mutation, g.6333–6341delGACTCTTTCA, located in exon 8, was reported in a Thai patient living in a rural village in Thailand. We suggest that g.6333–6341delGACTCTTTCA may be a...
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