Loterre: Patologías humanas: Elejalde syndrome

disease > skin appendages disease > skin disease > Elejalde syndrome

disease > complex syndrome > Elejalde syndrome

disease > nervous system diseases > central nervous system diseases > Elejalde syndrome

Elejalde syndrome

Elejalde syndrome is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen.It is associated with MYO5A. (Wikipedia)

http://data.loterre.fr/ark:/67375/VH8-ZZLLJ77K-B

RDF/XML TURTLE JSON-LD última modificación 14/5/20

LOTERRE