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Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
🥈 ObservacionalClinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow.