Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Pauline MarzinSophie RondeauJean-Luc AlessandriKlaus DieterichCarine le GoffClémentine MahautSandra MercierCaroline MichotOana MoldovanGianmaria MioloMassimiliano RossiJulien Van-GilsChristine FrancannetMatthieu RobertJean-Philippe JaïsCéline HuberValerie Cormier-DairePublished in: Journal of medical genetics (2023)
Apart from the ophthalmological findings, which are mandatory for the diagnosis, the phenotype of WMS seems to be more variable than initially described, partially explained by genotype-phenotype correlation.
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