Elejalde syndrome
Encyclopedia
Elejalde syndrome is a rare autosomal recessive syndrome consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen.
It is associated with MYO5A
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It is associated with MYO5A
MYO5A
Myosin-Va is a protein that in humans is encoded by the MYO5A gene.-Interactions:MYO5A has been shown to interact with DYNLL1, RAB27A and DYNLL2.-Clinical significance:...
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