Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children

Fan, LJ; Ren, XY; Song, YN; Su, C; Fu, JF; Gong, CX

Gong, CX (reprint author), Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Endocrinol Genet Metab, 56 Nan Lishi Rd, Beijing 100045, Peoples R China.; Gong, CX (reprint author), Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Chi

ORPHANET JOURNAL OF RARE DISEASES, 2019; 14 (1):

Abstract

Background: Antley-Bixler syndrome (ABS) caused by P450 oxidoreductase deficiency (PORD) is a congenital adrenal hyperplasia with skeletal malformatio......

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