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Neuro-ectodermale melanolysosomale ziekte

Vertaling van "neuro-ectodermale melanolysosomale ziekte " (Nederlands → Engels) :

neuro-ectodermale melanolysosomale ziekte

Syndrome that is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during




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Date index: 2024-04-04
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