Schizencephaly revisited
Author:
Funder
University of Sheffield
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine,Clinical Neurology,Radiology Nuclear Medicine and imaging
Link
http://link.springer.com/article/10.1007/s00234-018-2056-7/fulltext.html
Reference27 articles.
1. Curry CJ, Lammer EJ, Nelson V, Shaw GM (2005) Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet 137A:181–189
2. Howe DT, Rankin J, Draper ES (2012) Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol 39(1):75–82
3. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E (1996) Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12:94–96
4. Yoneda Y et al (2013) Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol 73:48–57
5. U H, Pineda-Alvarez DE, Uyanik G, Hu P et al (2010) Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet 127(5):555–561
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