Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

Zinc finger protein, FOG2 family member 2 (ZFPM2) (previously named FOG2) gene defects result in the highly morbid congenital diaphragmatic hernia (CDH) in humans and animal models. In a cohort of 275 CDH patient exomes, we estimated the prevalence of damaging ZFPM2 mutations to be almost 5%. Geneti...

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Vydáno v:Clin Genet
Hlavní autoři: Longoni, M., Russell, M.K., High, F.A., Darvishi, K., Maalouf, F.I., Kashani, A., Tracy, A.A., Coletti, C.M., Loscertales, M., Lage, K., Ackerman, K.G., Woods, S.A., Ward-Melver, C., Andrews, D., Lee, C., Pober, B.R., Donahoe, P.K.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4410767/
https://ncbi.nlm.nih.gov/pubmed/24702427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12395
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