576kb deletion in 1p36.33–p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference22 articles.
1. Monosomy 1p36—a recently delineated, clinically recognizable syndrome;Zenker;Clin. Dysmorphol.,2002
2. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome;Heilstedt;Am. J. Hum. Genet.,2003
3. Monosomy 1p36 deletion syndrome;Gajecka;Am. J. Med. Genet. C: Semin. Med. Genet.,2007
4. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation;Battaglia;Pediatrics,2008
5. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy;Bursztejn;Am. J. Med. Genet. A,2009
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4. 1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review;Journal of Cardiovascular Development and Disease;2021-11-19
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