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Article

Near complete deletion of KMT2D in a college student.

American journal of medical genetics. Part A - 1 May 2022

Gooch Catherine, Souder Jaclyn Paige, Tedder Matthew L, Kerkhof Jennifer, Lee Jennifer A, Louie Raymond J, Sadikovic Bekim, Fletcher Robin S, Robin Nathaniel H

Abstract excerpt

Pathogenic variants in KMT2D are typically associated with Kabuki syndrome (KS), a rare multisystem disorder. KS is characterized by facial dysmorphisms, intellectual disability, skeletal and dermatoglyphic differences, and poor growth. Seventy percent of individuals with clinically diagnosed KS have a confirmed pathogenic variant in KMT2D or less commonly KDM6A. The majority of mutations found in KMT2D are de...

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Identifiers

PMID: 35040536
DOI: 10.1002/ajmg.a.62652
PMCID: PMC8995339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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