Elejalde syndrome
Jump to navigation
Jump to search
Template:Infobox medical condition (new) Elejalde syndrome or neuroectodermal melanolysosomal disease is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound central nervous system dysfunction, no immune defects, and hair with a metallic silvery sheen.[1][2] The changes to hair and skin pigmentation are associated with altered melanosome trafficking.[2]
It is associated with MYO5A.Script error: No such module "Unsubst".
See also
References
<templatestyles src="Reflist/styles.css" />
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Template:ISBN.
- ↑ a b Script error: No such module "Citation/CS1".
Script error: No such module "Check for unknown parameters".
External links
Template:Pigmentation disorders Template:Cytoskeletal defects