Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

To identify whether parent-of-origin effects (POE) of the 15q11.2 BP1-BP2 microdeletion are associated with differences in clinical features in individuals inheriting the deletion, we collected 71 individuals reported with phenotypic data and known inheritance from a clinical cohort, a research coho...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Kyle W. Davis, Moises Serrano, Sara Loddo, Catherine Robinson, Viola Alesi, Bruno Dallapiccola, Antonio Novelli, Merlin G. Butler
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI AG 2019-03-01
Sarja:International Journal of Molecular Sciences
Aiheet:
15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome
imprinting
parent-of-origin effects
phenotype-genotype correlation
autism
developmental delays
motor delays
Linkit:https://www.mdpi.com/1422-0067/20/6/1459
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia