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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2019
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| Materias: | |
| 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 |