Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

Heterozygous missense variants in the WD repeat domain 11 (WDR11) gene are associated with hypogonadotropic hypogonadism in humans. In contrast, knockout of both alleles of Wdr11 in mice results in a more severe phenotype with growth and developmental delay, features of holoprosencephaly, heart defe...

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Detalles Bibliográficos
Autores principales: Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H. M., Brett, Maggie, Mochida, Ganeshwaran H., DiTroia, Stephanie, Pais, Lynn, Neil, Jennifer E., Al-Saffar, Muna, Bastaki, Laila, Walsh, Christopher A., Kurth, Ingo, Knopp, Cordula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560748/
https://www.ncbi.nlm.nih.gov/pubmed/34413497
http://dx.doi.org/10.1038/s41431-021-00943-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560748/
https://www.ncbi.nlm.nih.gov/pubmed/34413497
http://dx.doi.org/10.1038/s41431-021-00943-5

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