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...

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Detalles Bibliográficos
Autores principales: Kossack, Nina, Simoni, Manuela, Richter-Unruh, Annette, Themmen, Axel P. N, Gromoll, Jörg
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
Materias:
Research Article
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

Internet

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

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