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...

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Detalles Bibliográficos
Autores principales: Gozes, Illana, Patterson, Marc C., Van Dijck, Anke, Kooy, R. Frank, Peeden, Joseph N., Eichenberger, Jacob A., Zawacki-Downing, Angela, Bedrosian-Sermone, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437153/
https://www.ncbi.nlm.nih.gov/pubmed/28579975
http://dx.doi.org/10.3389/fendo.2017.00107

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