An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. Issue 2 (February 1987)
- Record Type:
- Journal Article
- Title:
- An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. Issue 2 (February 1987)
- Main Title:
- An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.
- Authors:
- Patton, M A
Baraitser, M
Heagerty, A H
Eady, R A - Abstract:
- Abstract : A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are similar to those of the oculocerebral hypopigmentation syndrome described by Preus et al.
- Is Part Of:
- Journal of medical genetics. Volume 24:Issue 2(1987)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 24:Issue 2(1987)
- Issue Display:
- Volume 24, Issue 2 (1987)
- Year:
- 1987
- Volume:
- 24
- Issue:
- 2
- Issue Sort Value:
- 1987-0024-0002-0000
- Page Start:
- 118
- Page End:
- 122
- Publication Date:
- 1987-02
- Subjects:
- Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.24.2.118 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 23690.xml