Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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POGZ variants in neurodevelopmental disorders
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BCL11B related disorder : clinical phenotype, neuropsychological profile, brain MRI characteristics and epigenetic signature
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Search for patients with biallelic variants in genes implicated in the ufmylation pathway
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MAP3K7-associated phenotype
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KMT2B-related disorders without dystonia
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Phenotype-genotype study of TAF2
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KLHL11 pathogenic variant in patients with lichen planus, abnormalities of the nails and tumour proneness
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Genotype-phenotype correlation of the CHD8-related developmental disorder
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Phenothype-Genotype relationships in 3q29-microduplication syndrome
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Search for patients with patients with recessive variants in SNX13 gene