1-1 of 1
Keywords: AHDC1 mutation
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Mary García-Acero, Johanna Acosta
Journal: Molecular Syndromology
Mol Syndromol (2017) 8 (6): 308–312.
https://doi.org/10.1159/000479357
Published Online: 08 September 2017
... from any ideas, methods, instructions or products referred to in the content or advertisements. Whole-exome sequencing AHDC1 mutation Xia-Gibbs syndrome Many patients living with rare genetic diseases have gone through several rounds of genetic testing (e.g., karyotyping, candidate...
View article titled, Whole-Exome Sequencing Identifies a de novo <span class="search-highlight">AHDC1</span> <span class="search-highlight">Mutation</span> in a Colombian Patient with Xia-Gibbs Syndrome
Open the PDF for Whole-Exome Sequencing Identifies a de novo <span class="search-highlight">AHDC1</span> <span class="search-highlight">Mutation</span> in a Colombian Patient with Xia-Gibbs Syndrome in another window