Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

We identified a 14q21.2 microdeletion in a 16-year-old boy with autism spectrum disorder (ASD), IQ in the lower part of normal range but high-functioning memory skills. The deletion affects a gene desert, and the non-deleted gene closest to the microdeletion boundaries is LRFN5, which encodes a prot...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Eur J Hum Genet
Главные авторы: Cappuccio, Gerarda, Attanasio, Sergio, Alagia, Marianna, Mutarelli, Margherita, Borzone, Roberta, Karali, Marianthi, Genesio, Rita, Mormile, Angela, Nitsch, Lucio, Imperati, Floriana, Esposito, Annalisa, Banfi, Sandro, Del Giudice, Ennio, Brunetti-Pierri, Nicola
Формат: Artigo
Язык:Inglês
Опубликовано: Springer International Publishing 2019
Предметы:
Brief Communication
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777536/
https://ncbi.nlm.nih.gov/pubmed/31152157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0430-5
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы