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Home > For Clinicians > List Of Publications > Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders
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ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

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