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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Cold Spring Harb Mol Case Stud
Hlavní autoři: Polonis, Katarzyna, Blackburn, Patrick R., Urrutia, Raul A., Lomberk, Gwen A., Kruisselbrink, Teresa, Cousin, Margot A., Boczek, Nicole J., Hoppman, Nicole L., Babovic-Vuksanovic, Dusica, Klee, Eric W., Pichurin, Pavel N.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2018
Témata:
Research Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky