Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- and intrafamilial variability. It has been hypothesized that addition...

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Detalles Bibliográficos
Autores principales: Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Höhne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam, Yousaf, Hammad, Ali, Zafar, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad, Anjum, Iram, Altmüller, Janine, Thiele, Holger, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8153008/
https://www.ncbi.nlm.nih.gov/pubmed/34068194
http://dx.doi.org/10.3390/genes12050731

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8153008/
https://www.ncbi.nlm.nih.gov/pubmed/34068194
http://dx.doi.org/10.3390/genes12050731

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