Open Access Articles- Top Results for Elejalde syndrome

Elejalde syndrome

Elejalde syndrome
Classification and external resources
OMIM 214450
eMedicine article/1069594
NCI Elejalde syndrome
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


  1. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

Lua error in package.lua at line 80: module 'Module:Buffer' not found.