A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism

M.L. Ribeiro,; D.F. Cabral,; A.T. Maciel-Guerra,; G. Guerra Jr.,; C. Hackel,

doi:10.1515/IJDHD.1999.1.2.91

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A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism

M.L. Ribeiro, , D.F. Cabral, , A.T. Maciel-Guerra, , G. Guerra Jr., and C. Hackel,

Published/Copyright: April 1, 1999

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From the journal International Journal on Disability and Human Development Volume 1 Issue 2

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Ribeiro,, M.L., Cabral,, D.F., Maciel-Guerra,, A.T., Guerra Jr.,, G. and Hackel,, C.. "A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism" International Journal on Disability and Human Development, vol. 1, no. 2, pp. 91-94. https://doi.org/10.1515/IJDHD.1999.1.2.91

Ribeiro,, M., Cabral,, D., Maciel-Guerra,, A., Guerra Jr.,, G. & Hackel,, C. (). A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism. International Journal on Disability and Human Development, 1(2), 91-94. https://doi.org/10.1515/IJDHD.1999.1.2.91

Ribeiro,, M., Cabral,, D., Maciel-Guerra,, A., Guerra Jr.,, G. and Hackel,, C. () A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism. International Journal on Disability and Human Development, Vol. 1 (Issue 2), pp. 91-94. https://doi.org/10.1515/IJDHD.1999.1.2.91

Ribeiro,, M.L., Cabral,, D.F., Maciel-Guerra,, A.T., Guerra Jr.,, G. and Hackel,, C.. "A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism" International Journal on Disability and Human Development 1, no. 2 (): 91-94. https://doi.org/10.1515/IJDHD.1999.1.2.91

Ribeiro, M, Cabral, D, Maciel-Guerra, A, Guerra Jr., G, Hackel, C. A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism. International Journal on Disability and Human Development. ;1(2): 91-94. https://doi.org/10.1515/IJDHD.1999.1.2.91

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Published Online: 1999-04

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https://doi.org/10.1515/IJDHD.1999.1.2.91

Articles in the same Issue

CONTENTS
Letter from the Editors
Glucocorticoid Receptor Isoforms Alpha and Beta: Potential Physiological and Pathological Importance
NeuroD/Beta2 Polymorphism is Not Associated with Type 1 Diabetes in Chinese, Korean, or Caucasian Populations
CYP11B1 Intragenic Polymorphisms Give Evidence for a Different Q356X Allele in an African-Brazilian Patient
Mutations in the CFTR Gene are Not a Common Finding in Patients with Diabetes
A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism
Growth Hormone Insensitivity (Laron Syndrome) in a Russian Girl of Slavic Origin Caused by a Common Mutation of the GH Receptor Gene
Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia
FORUM AND CORRESPONDENCE. BOOK REVIEWS. CALENDAR