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GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva
- Source :
- Clinical Genetics. 52:110-115
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- We report on a 3-year-old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.
- Subjects :
- Male
medicine.medical_specialty
Pathology
Conjunctiva
Gingiva
Pathogenesis
Atrophy
Biopsy
Genetics
medicine
Humans
Abnormalities, Multiple
GAPO syndrome
Pathological
Growth Disorders
Genetics (clinical)
Anodontia
medicine.diagnostic_test
business.industry
Alopecia
Syndrome
medicine.disease
Magnetic Resonance Imaging
Radiography
Optic Atrophy
medicine.anatomical_structure
Child, Preschool
Optic nerve
Egypt
Histopathology
business
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 52
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....66fb1fa5f11328fb5be03ef31112ad0f
- Full Text :
- https://doi.org/10.1111/j.1399-0004.1997.tb02527.x