Loading...
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Overgrowth syndromes are a clinically heterogeneous group of disorders characterized by localized or generalized tissue overgrowth and varying degrees of developmental and intellectual disability. An expanding list of genes associated with overgrowth syndromes include the histone methyltransferase g...
Na minha lista:
| Udgivet i: | Cold Spring Harb Mol Case Stud |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Cold Spring Harbor Laboratory Press
2018
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6071565/ https://ncbi.nlm.nih.gov/pubmed/29802153 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002899 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|