Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33766/fullpdf
Reference12 articles.
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2. Neurexin-neuroligin signaling in synapse development;Craig;Curr Opin Neurobiol,2007
3. Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype;Karnitis;Am J Med Genet,1992
4. Disruption of neurexin 1 associated with autism spectrum disorder;Kim;Am J Hum Genet,2008
5. Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome;Le Meur;Am J Med Genet Part A,2005
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1. A 14q31.1-q32.11 deletion case: Genotype – Neurological Phenotype Correlations in 14q interstitial deletion syndrome;Romanian Biotechnological Letters;2020-06-06
2. Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions;Molecular Syndromology;2020
3. A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2018-08-04
4. A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome;Acta Medica Marisiensis;2016-09-01
5. Neurological features of 14q24-q32 interstitial deletion: report of a new case;Molecular Cytogenetics;2015-11-24
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