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Complex phenotypes in an Indian family with homozygous SCA2 mutations

โœ Scribed by Mona Ragothaman; Nagaraja Sarangmath; Shashi Chaudhary; Vishwamohini Khare; Uma Mittal; Sangeeta Sharma; Sreelatha Komatireddy; Subhabrata Chakrabarti; Mitali Mukerji; Ramesh C. Juyal; B. K. Thelma; Uday B. Muthane


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
66 KB
Volume
55
Category
Article
ISSN
0364-5134

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The molecular basis of a patient with 5โฃreductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity early in life. The diagnosis was set at the age of 1