Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia

Lin, Y; Xu, J; Li, X; Sheng, H; Su, L; Wu, M; Cheng, J; Huang, Y; Mao, X; Zhou, Z; Zhang, W; Li, C; Cai, Y; Wu, D; Lu, Z; Yin, X; Zeng, C; Liu, L

Zeng, C; Liu, L (corresponding author), Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Genet & Endocrinol, 9 Jinsui Rd, Guangzhou 510623, Peoples R China.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2020; 43 (11): 1577

Abstract

Purpose X-linked hypophosphatemia (XLH) is the most common inherited renal phosphate wasting disorder and is often misdiagnosed as vitamin D deficienc......

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