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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2018
Matèries:
Research Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars