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Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency
The 46, XY disorder of sex development (DSD) is the main cause of birth defects; however, as it is a group of highly heterogeneous diseases, >50% of cases are not accurately diagnosed. Identification of more cases will improve understanding of the relationship between genotype and phenotype for D...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9494616/ https://www.ncbi.nlm.nih.gov/pubmed/36102299 http://dx.doi.org/10.3892/mmr.2022.12854 |