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This disorder constitutes another recognizable malformationsyndrome with a metabolic basis.
2
Antley-Bixler syndrome (ABS) is a skeletal malformationsyndrome primarily affecting the skull and limbs.
3
We report on the unusual association of a malformationsyndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia.
4
The phenotype is genetically heterogeneous, and it can be identified either as an isolated phenotypic manifestation or as a constituent component of a malformationsyndrome.
5
Summary: Genes involved in vascular stability pathways are good candidates for causing vascular malformationsyndromes.
Translations for developmental defect during embryogenesis