Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

BACKGROUND: Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects. METHODS: High-resol...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Butler, Merlin G, Hartin, Samantha N, Hossain, Waheeda A, Manzardo, Ann M, Kimonis, Virginia, Dykens, Elisabeth, Gold, June Anne, Kim, Soo-Jeong, Weisensel, Nicolette, Tamura, Roy, Miller, Jennifer L, Driscoll, Daniel J
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7387113/
https://ncbi.nlm.nih.gov/pubmed/29730598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105301
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