The phenotype of EZH2 haploinsufficiency—1.2‐Mb deletion at 7q36.1 in a child with tall stature and intellectual disability
Author:
Affiliation:
1. GKT Medical SchoolGuy's Hospital CampusLondonUK
2. Department of Clinical GeneticsCity CampusNottingham University Hospitals NHS TrustNottinghamUK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38356
Reference12 articles.
1. Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
2. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
3. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
4. Mutations in EZH2 Cause Weaver Syndrome
5. EZH2 deletion in early mesenchyme compromises postnatal bone microarchitecture and structural integrity and accelerates remodeling
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