Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth

Background: Paternal uniparental disomy (UPD) of chromosome 7 is extremely rare, and only a few postnatal cases have been reported. The effects on growth were discordant in these cases, and the relevance of paternal UPD(7) to growth caused by imprinting remains questionable. Case presentation: Here,...

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Detalles Bibliográficos
Autores principales: Bu, Xiufen, Li, Xu, Peng, Can, Li, Hongyu, Zhou, Shihao, Zhu, Zesen, He, Jun, Linpeng, Siyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619901/
https://www.ncbi.nlm.nih.gov/pubmed/37920852
http://dx.doi.org/10.3389/fgene.2023.1272028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619901/
https://www.ncbi.nlm.nih.gov/pubmed/37920852
http://dx.doi.org/10.3389/fgene.2023.1272028

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