A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

BACKGROUND: Desert hedgehog (DHH) mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with DHH mutations. Herei...

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Detalles Bibliográficos
Autores principales: Rothacker, Karen M., Ayers, Katie L., Tang, Dave, Joshi, Kiranjit, van den Bergen, Jocelyn A., Robevska, Gorjana, Samnakay, Naeem, Nagarajan, Lakshmi, Francis, Kate, Sinclair, Andrew H., Choong, Catherine S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834851/
https://www.ncbi.nlm.nih.gov/pubmed/29507583
http://dx.doi.org/10.1186/s13633-018-0056-3

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