Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability-Reference-Cited by-同舟云学术

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability

Published:2018-09 Issue:9 Volume:176 Page:1981-1984
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Nguyen Huy Hoang¹,Pham Van Anh²,Barcia Giulia³,Malan Valérie³,Nguyen Kiem Lien Thi¹,Ngo Diem Ngoc²,Nguyen Thu Hien¹⁴,Landrieu Pierre³,Colleaux Laurence³⁵,Nong Van Hai¹,Nguyen Lam Son³⁵^ORCID

Affiliation:

1. Institute of Genome Research, Vietnam Academy of Science and Technology Hanoi Vietnam

2. Vietnam National Hospital of Pediatrics Hanoi Vietnam

3. Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute Paris France

4. Graduate University of Science and TechnologyVietnam Academy of Science and Technology Hanoi Vietnam

5. Paris Descartes–Sorbonne Paris Cité University Paris France

Funder

Fondation de la Recherche Médicale

Vietnam National Foundation for Science and Technology Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40375

Reference11 articles.

1. The Human FA2H Gene Encodes a Fatty Acid 2-Hydroxylase

2. A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

3. The Genotype-Tissue Expression (GTEx) project

4. Regulation of Neuronal Voltage-gated Sodium Channels by the Ubiquitin-Protein Ligases Nedd4 and Nedd4-2

5. Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report

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