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Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism
BACKGROUND: Male pseudohermaphroditism, or Leydig cell hypoplasia (LCH), is an autosomal recessive disorder in individuals with a 46,XY karyotype, characterized by a predominantly female phenotype, a blind-ending vagina, absence of breast development, primary amenorrhea, and the presence of testicul...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2008
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2323302/ https://www.ncbi.nlm.nih.gov/pubmed/18433292 http://dx.doi.org/10.1371/journal.pmed.0050088 |