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Author

Si-Si Ning

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Case report Open access Aug 2026

Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree

Findings highlight the considerable clinical overlap between AHC and CAH, indicating that CNV analysis of the Xp21 region should be included in the diagnostic workup for male infants with suspected CAH but negative routine genetic testing.

Dong-Hua Zhang, Wen-Chun Li, Mei Li et al. · 0 citations

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