Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in theGJB2gene encoding connexin 26
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01211.x/fullpdf
Reference26 articles.
1. Internal hydrocephalus: an experimental, clinical and pathological study;Dandy;Am J Dis Child,1914
2. Human malformations of the midbrain and hindbrain: review and proposed classification scheme;Parisi;Mol Genet Metab,2003
3. Relationship between cerebellar appearance and function in children with Dandy-Walker syndrome;Gerszten;Pediatr Neurosurg,1995
4. Familial DWM associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?;Chitayat;Am J Med Genet,1994
5. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in DWM;Grinberg;Nat Genet,2004
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