A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role forMBNLI
Author:
Affiliation:
1. Unita’ di Genetica Medica; A.O.U. Pisana, Ospedale S.Chiara; Pisa Italy
2. Sezione di Neurologia Pediatrica; A.O.U. Pisana, Ospedale S.Chiara; Pisa Italy
3. Department of Pediatric Neurology; Oxford Children's Hospital; Oxford UK
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38002/fullpdf
Reference16 articles.
1. De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability;Brett;Gene,2013
2. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature;de Ru;Am J Med Genet Part A,2005
3. Dandy-Walker malformation and Wisconsin syndrome: Novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions;Ferraris;Orphanet J Rare Dis,2013
4. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation;Grinberg;Nat Genet,2004
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1. Wisconsin syndrome with brain volume laterality: a case report and review of the literature;Journal of Medical Case Reports;2022-04-16
2. Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays;Scientific Reports;2021-03-05
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