Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion

Introduction: Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of the lower extremities with or without XY sex reversal. Diagnosis using ultrasonography is most often made in the latter half of pregnancy. Intragenic heterozyg...

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Detalles Bibliográficos
Autores principales: Liu, Xijing, Wang, Jianmin, Yang, Mei, Tian, Tian, Hu, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465627/
https://www.ncbi.nlm.nih.gov/pubmed/36105084
http://dx.doi.org/10.3389/fgene.2022.950271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465627/
https://www.ncbi.nlm.nih.gov/pubmed/36105084
http://dx.doi.org/10.3389/fgene.2022.950271

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