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Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regressi...

Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regressi...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71329989

Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients

About this item

Full title

Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients

Publisher

Heidelberg: Springer

Journal title

European journal of pediatrics, 2003-11, Vol.162 (11), p.781-784

Language

English

Formats

Publication information

Publisher

Heidelberg: Springer

More information

Scope and Contents

Contents

Complete androgen insensitivity syndrome (CAIS) is a relatively rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. In these individuals, no müllerian derivatives are usually found; however, several sporadic cases of CAIS with müllerian remnants have been reported. In th...

Alternative Titles

Full title

Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_71329989

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71329989

Other Identifiers

ISSN

0340-6199

E-ISSN

1432-1076

DOI

10.1007/s00431-003-1301-0

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