De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf–Hirschhorn syndrome

Wolf–Hirschhorn syndrome (WHS) is a rare but recurrent microdeletion syndrome associated with hemizygosity of an interstitial segment of Chromosome 4 (4p16.3). Consistent with historical reports in which overlapping deletions defined a minimal critical region in WHS patients, recent reports from exo...

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Detalles Bibliográficos
Autores principales: Barrie, Elizabeth S., Alfaro, Maria P., Pfau, Ruthann B., Goff, Melanie J., McBride, Kim L., Manickam, Kandamurugu, Zmuda, Erik J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672030/
https://www.ncbi.nlm.nih.gov/pubmed/31171569
http://dx.doi.org/10.1101/mcs.a004044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672030/
https://www.ncbi.nlm.nih.gov/pubmed/31171569
http://dx.doi.org/10.1101/mcs.a004044

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