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

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

BackgroundActivity-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.AimThe aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719*...

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Bibliographic Details
Main Authors: Illana Gozes, Marc C. Patterson, Anke Van Dijck, R. Frank Kooy, Joseph N. Peeden, Jacob A. Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-05-01
Series:Frontiers in Endocrinology
Subjects:
activity-dependent neuroprotective protein
case study
mutation
nonsense
motor delays
autism spectrum disorder
Online Access:http://journal.frontiersin.org/article/10.3389/fendo.2017.00107/full

Internet

http://journal.frontiersin.org/article/10.3389/fendo.2017.00107/full

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