Article
XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype.
American journal of medical genetics - 10 Jan 1997
Angle B, Hersh J H, Yen F, Verdi G D
Abstract excerpt
Most phenotypic females with an XY male karyotype do not have significant extragenital anomalies; however, some patients with additional abnormalities have been described. We report on an individual with XY gonadal dysgenesis, mental retardation, microcephaly, growth retardation, and multiple pterygia. Although not previously reported, the possible relationship between these findings is discussed in the context...
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