FAQ

AHDC1 gene

Known as: DJ159A19.3, AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1, AHDC1 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2014-2016
0120142016

Papers overview

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2017
2017
Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay… (More)
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2017
2017
Exome Pool-Seq in neurodevelopmental disorders
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite… (More)
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2017
2017
Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1
Hae-Yeon Park, M.D., Myungshin Kim, M.D., Woori Jang, M.D., and Dae-Hyun Jang, M.D. Department of Rehabilitation Medicine… (More)
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Review
2017
Review
2017
Biological significance of genome-wide DNA methylation profiles in keloids.
OBJECTIVES/HYPOTHESIS To obtain biological insight into keloid pathogenesis and treatment using pathway analysis of genome-wide… (More)
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2016
2016
Novel genetic causes for cerebral visual impairment
Cerebral visual impairment (CVI) is a major cause of low vision in children due to impairment in projection and/or interpretation… (More)
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2015
2015
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus
Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for… (More)
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2015
2015
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay
Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up… (More)
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2014
2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the… (More)
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