Near complete deletion of <scp> <i>KMT2D</i> </scp> in a college student-Reference-Cited by-同舟云学术

Near complete deletion of KMT2D in a college student

Published:2022-01-18 Issue:5 Volume:188 Page:1550-1555
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Gooch Catherine¹^ORCID,Souder Jaclyn Paige²^ORCID,Tedder Matthew L.³,Kerkhof Jennifer⁴,Lee Jennifer A.³,Louie Raymond J.³^ORCID,Sadikovic Bekim⁴⁵^ORCID,Fletcher Robin S.³,Robin Nathaniel H.¹^ORCID

Affiliation:

1. Departments of Genetics and Pediatrics University of Alabama at Birmingham Birmingham Alabama USA

2. Medical Scientist Training Program University of Alabama at Birmingham Birmingham Alabama USA

3. Greenwood Genetic Center Greenwood South Carolina USA

4. Molecular Genetics Laboratory, Molecular Diagnostics Division London Health Sciences Centre London Ontario Canada

5. Department of Pathology and Laboratory Medicine Western University London Ontario Canada

Funder

National Institute of General Medical Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62652

Reference35 articles.

1. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

2. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

3. MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

4. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

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