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Home > Our Research Activities > List Of Publications > A. Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report

A. Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report

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Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

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