First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference10 articles.
1. Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions;Bonaglia;Eur. J. Hum. Genet.,2010
2. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12;Draaken;Birth. Defects. Res. A. Clin. Mol. Teratol,2013
3. DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation;Engels;Neurology,2007
4. A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth;Jelsig;Eur. J. Med. Genet.,2012
5. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies;Jensen;Am. J. Med. Genet. A,2009
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2. Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems;neurogenetics;2021-06-16
3. Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report;Cytogenetic and Genome Research;2021
4. Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome;Annals of Human Genetics;2018-10-10
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