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McKusick-Kaufman Syndrome: A Case Report With an Emphasis on Perinatal Diagnosis and Genetic Counseling
McKusick-Kaufman syndrome is a rare genetic disorder that affects limb development, genital formation, and heart function. It is caused by mutations in the MKKS gene on chromosome 20. Individuals with this condition may have extra fingers or toes, fused labia or undescended testes, and, less commonl...
Autores principales: | Khanke, Sankalp, Agrawal, Aman, Toshniwal, Vaishnavi, Bakshi, Sanket S, Chandak, Aruna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196697/ https://www.ncbi.nlm.nih.gov/pubmed/37214064 http://dx.doi.org/10.7759/cureus.37808 |
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