A Case of Campomelic Dysplasia without Sex Reversal

Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of...

Descripción completa

Detalles Bibliográficos
Autores principales: Kim, Hyoung-Young, Yoon, Chong Hyun, Kim, Gu-Hwan, Yoo, Han-Wook, Lee, Byong Sop, Kim, Ki Soo, Kim, Ellen Ai-Rhan
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012840/
https://www.ncbi.nlm.nih.gov/pubmed/21218044
http://dx.doi.org/10.3346/jkms.2011.26.1.143

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012840/
https://www.ncbi.nlm.nih.gov/pubmed/21218044
http://dx.doi.org/10.3346/jkms.2011.26.1.143

Ejemplares similares