Roberts syndrome with tetraphocomelia: A case report and literature review

Roberts syndrome is a rare genetic disorder characterized by symmetrical reductive limb malformation and craniofacial abnormalities. It is caused by mutation in the “Establishment of cohesion 1 homolog 2” genes, resulting in the loss of acetyltransferase activities and manifesting as premature centr...

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Detalles Bibliográficos
Autores principales: Okpala, Boniface Chukwuneme, Echendu, Sylvia Tochukwu, Ikechebelu, Joseph Ifeanyichukwu, Eleje, George Uchenna, Joe-Ikechebelu, Ngozi Nneka, Nwajiaku, Louis Anayo, Nwachukwu, Cyril Emeka, Igbodike, Emeka Philip, Nnoruka, Mark Chinedu, Okpala, Augusta Nkiruka, Ofojebe, Chukwuemeka Jude, Umeononihu, Osita Samuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039428/
https://www.ncbi.nlm.nih.gov/pubmed/35495290
http://dx.doi.org/10.1177/2050313X221094077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039428/
https://www.ncbi.nlm.nih.gov/pubmed/35495290
http://dx.doi.org/10.1177/2050313X221094077

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