Author

Cai-Lian Xie

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Review Open access Aug 2026

Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review

This study describes a neonate with PORD caused by three novel POR variants and expands the known clinical spectrum of PORD by identifying rare manifestations including anal atresia and hearing loss.

Wen-Ting Zhang, Jun Zeng, Yan-Jing Li et al. · Frontiers in Endocrinology · 0 citations