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A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome
Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario. Methods: This stud...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236311/ https://www.ncbi.nlm.nih.gov/pubmed/37274790 http://dx.doi.org/10.3389/fgene.2023.1140083 |