Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference25 articles.
1. MLP-Deficient Mice Exhibit a Disruption of Cardiac Cytoarchitectural Organization, Dilated Cardiomyopathy, and Heart Failure
2. Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy
3. A fourth human MEF2 transcription factor, hMEF2D, is an early marker of the myogenic lineage
4. Confirmation of proximal 1q duplication using fluorescence in situ hybridization
5. Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility
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1. Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype;The Cleft Palate-Craniofacial Journal;2016-11
2. De NovoTrisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies;Case Reports in Genetics;2016
3. Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case;Pediatric Surgery International;2009-07-24
4. C;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
5. A Molecular Basis for Wolff–Parkinson–White Syndrome;New England Journal of Medicine;2001-06-14
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