The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome. AIM: The aim of this study was to provide a detailed developmental case study of ADNP p.Ty...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Front Endocrinol (Lausanne)
Main Authors: Gozes, Illana, Patterson, Marc C., Van Dijck, Anke, Kooy, R. Frank, Peeden, Joseph N., Eichenberger, Jacob A., Zawacki-Downing, Angela, Bedrosian-Sermone, Sandra
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5437153/
https://ncbi.nlm.nih.gov/pubmed/28579975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2017.00107
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados