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...

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Detalles Bibliográficos
Autores principales: Khanke, Sankalp, Agrawal, Aman, Toshniwal, Vaishnavi, Bakshi, Sanket S, Chandak, Aruna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
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

Internet

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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