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- Title
CHEDIAK-HIGASHI SYNDROME: A NOVEL MUTATION.
- Authors
Buldeo, Suvarna; Pillay, Ashendri; Chateau, Antoinette; Dube-Pule, Anele; Naicker, Thirona
- Abstract
At the age of six weeks, a female patient whose family was known to our clinic presented for elective screening. The white cells on her peripheral smear showed giant inclusions and the ophthalmological examination revealed aplastic fovea with hypopigmented fundi. A clinical diagnosis of Chediak-Higashi syndrome was made.
- Subjects
CHEDIAK-Higashi syndrome; GENETIC disorder diagnosis; OPHTHALMOLOGY; MEDICAL screening; CLINICAL trials
- Publication
Current Allergy & Clinical Immunology, 2024, Vol 37, Issue 1, p11
- ISSN
1609-3607
- Publication type
Article