A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference12 articles.
1. Genotype-phenotype relationship in three cases with overlapping 19p13.13 microdeletions;Bonaglia;Eur. J. Hum. Genet.,2010
2. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion;Gallant;Am. J. Med. Genet. A,2011
3. Branchial arch defect and 19p13.12 microdeletion: defining the critical region into a 0,8 M base interval;Kosaki;Am. J. Med. Genet. A,2010
4. A de novo 1.1 Mb microdeletion of chromosome 19p13-11 provides indirect evidence for EPS15L1 to be a strong candidate for split hans split foot malformation;Bens;Eur. J. Med. Genet.,2011
5. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion – evidence for further heterogeneity?;Aten;Am. J. Med. Genet. A,2008
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay;European Journal of Medical Genetics;2023-01
2. Transcription Pause and Escape in Neurodevelopmental Disorders;Frontiers in Neuroscience;2022-05-09
3. 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
4. A recognizable phenotype related to 19p13.12 microdeletion;American Journal of Medical Genetics Part A;2018-07-28
5. First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome;European Journal of Medical Genetics;2018-06
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