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...

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Hlavní autoři: Kyle W. Davis, Moises Serrano, Sara Loddo, Catherine Robinson, Viola Alesi, Bruno Dallapiccola, Antonio Novelli, Merlin G. Butler
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI AG 2019-03-01
Edice:International Journal of Molecular Sciences
Témata:
15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome
imprinting
parent-of-origin effects
phenotype-genotype correlation
autism
developmental delays
motor delays
On-line přístup:https://www.mdpi.com/1422-0067/20/6/1459
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