mutation analysis of nr5a1 encoding steroidogenic factor 1 in 77 patients with 46, xy disorders of sex development (dsd) including hypospadias突变分析nr5a1编码steroidogenic因子1在77年46岁患者xy性发展的障碍(dsd)包括尿道下裂.pdfVIP
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mutation analysis of nr5a1 encoding steroidogenic factor 1 in 77 patients with 46, xy disorders of sex development (dsd) including hypospadias突变分析nr5a1编码steroidogenic因子1在77年46岁患者xy性发展的障碍(dsd)包括尿道下裂
Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias 1. 1. 1 2 2 Slimane Allali , Jean-Baptiste Muller , Raja Brauner , Diana Lourenc¸o , Radia Boudjenah , Vasiliki 2 3 4 4 ´ ´ ´ 5 Karageorgou , Christine Trivin , Henri Lottmann , Stephen Lortat-Jacob , Claire Nihoul-Fekete , Olivier 6 2 2 De Dreuzy , Ken McElreavey *, Anu Bashamboo * ´ ´ ´ ˆ ˆ ´ ´ ˆ 1 Universite Paris Descartes, Faculte de medecine and AP-HP, Hopital Bicetre, Unite d’Endocrinologie, Pediatrique, Le Kremlin Bicetre, France, 2 Human Developmental ˆ ˆ Genetics, Institut Pasteur, Paris, France, 3 AP-HP, Hopital Necker-Enfants Malades, Service d’explorations fonctionnelles, Paris, France, 4 AP-HP, Hopital Necker-Enfants ´ ´ ´ ˆ ˆ ´ Malades, Service de chirurgie viscerale pediatrique, Paris, France, 5 Universite Paris Descartes, Paris, France, 6 AP-HP, Hopital Bicetre, Service de Chirurgie Pediatrique, Le ˆ Kremlin Bicetre, France Abstract Background: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spe
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