Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance

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Oxford University Press

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Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome

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Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg–Shah (WS4) syndrome

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