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Article

Dysmorphic features in patients with complex glycerol kinase deficiency.

The Journal of pediatrics - 1 May 1995

Scheuerle A, Greenberg F, McCabe E R

Abstract excerpt

Complex glycerol kinase deficiency is a contiguous gene syndrome consisting of a deletion of the glycerol kinase locus, together with the genes for adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. We describe an infant with complex glycerol kinase deficiency and mildly dysmorp...

Topics

Adrenal Insufficiency
Face
Glycerol Kinase
Humans
Infant, Newborn
Male
Muscular Dystrophies
Phenotype
Syndrome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7752004
DOI: 10.1016/s0022-3476(95)70409-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7752004-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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