Elejalde syndrome
From Infogalactic: the planetary knowledge core
| Elejalde syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 214450 |
| eMedicine | article/1069594 |
| Patient UK | Elejalde syndrome |
Elejalde syndrome (also known as "Griscelli syndrome type 1") is a rare autosomal recessive syndrome consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen.[1]:866
It is associated with MYO5A.
See also
References
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- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
