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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

References

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



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