Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome
Author:
Affiliation:
1. Medical Genetics Department Bambino Gesù Children's Hospital Rome Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12289
Reference17 articles.
1. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?
2. A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation
3. Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions
4. Cornelia de Lange syndrome
5. Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study
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