Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-021-00665-2.pdf
Reference12 articles.
1. Türkmen S, Demirhan O, Hoffmann K et al (2006) Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome. J Med Genet 43(5):461–464. https://doi.org/10.1136/jmg.2005.040030
2. Gulsuner S, Tekinay AB, Doerschner K et al (2011) Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res 21(12):1995–2003. https://doi.org/10.1101/gr.126110.111
3. Komara M, John A, Suleiman J, Ali BR, Al-Gazali L (2016) Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. A J Med Gen A 170(2):540–543. https://doi.org/10.1002/ajmg.a.37421
4. Alazami AM, Patel N, Shamseldin HE et al (2015) Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 10(2):148–161. https://doi.org/10.1016/j.celrep.2014.12.015
5. Shaheen R, Sebai MA, Patel N et al (2017) The genetic land scape of familial congenital hydrocephalus. Ann Neurol 81(6):890–897. https://doi.org/10.1002/ana.24964
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