Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A

Postaxial polydactyly (PAP) is a common abnormality characterized by extra digits on hands and/or feet. To date, sequence variants in seven genes have been identified in non-syndromic PAP. In the present study, a fetus manifesting non-syndromic postaxial polydactyly type A (PAPA) was found by fetal...

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Detalles Bibliográficos
Autores principales: Yao, Yanyi, Deng, Shan, Zhu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316509/
https://www.ncbi.nlm.nih.gov/pubmed/35886013
http://dx.doi.org/10.3390/genes13071230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316509/
https://www.ncbi.nlm.nih.gov/pubmed/35886013
http://dx.doi.org/10.3390/genes13071230

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