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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 dysmorphic features similar to those seen in other patients, including an "hourglass" appearance of the middle of the face;...

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

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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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Dysmorphic features in patients with complex glycerol kinase deficiency.PMID 7752004Read ↗

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Mutations and phenotype in isolated glycerol kinase deficiency.Semantic proximity Read ↗

Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.Semantic proximity Read ↗

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Disruption of glycerol metabolism by RNAi targeting of genes encoding glycerol kinase results in a range of phenotype severity in Drosophila.Semantic proximity Read ↗

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