Загрузка...

Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints

Deletions of chromosome 1p36 are one of the most frequently encountered subtelomeric alterations. Clinical features of monosomy 1p36 include neurocognitive impairment, hearing loss, seizures, cardiac defects, and characteristic facial features. The majority of cases have occurred sporadically, imply...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Gajecka, Marzena, Saitta, Sulagna C., Gentles, Andrew J., Campbell, Lindsey, Ciprero, Karen, Geiger, Elizabeth, Catherwood, Anne, Rosenfeld, Jill A., Shaikh, Tamim, Shaffer, Lisa G.
Формат: Artigo
Язык:Inglês
Опубликовано: 2010
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3058890/
https://ncbi.nlm.nih.gov/pubmed/21108392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33733
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!