A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia
Dan Zhang, Ying Xin, Mingyu Li, Lingzhe Meng, Yajie Tong
Topics & Concepts
Missense mutationAmbiguous genitaliaGeneticsMutationChinese familyMale genitaliaBiologyMedicineZoologyPediatricsGeneSexual Differentiation and DisordersUrological Disorders and TreatmentsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities