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Article

Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.

American journal of medical genetics. Part A - 1 Feb 2018

Eguchi Mariko, Ozaki Erina, Yamauchi Toshifumi, Ohta Masaaki, Higaki Takashi, Masuda Kiyoshi, Imoto Issei, Ishii Eiichi, Eguchi-Ishimae Minenori

Abstract excerpt

22q11.2 deletion syndrome is one of the most common human microdeletion syndromes. The clinical phenotype of 22q11.2 deletion syndrome is variable, ranging from mild to life-threatening symptoms, depending mainly on the extent of the deleted region. Brain malformations described in association with 22q11.2 deletion syndrome include polymicrogyria, cerebellar hypoplasia, megacisterna magna, and agenesis of the...

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Source

Identifiers

PMID: 29265763
DOI: 10.1002/ajmg.a.38578

Genes

SNAP29
TUBA8

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.PMID 29265763Read ↗

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