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Home > For Clinicians > List Of Publications > Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

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

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

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