HIGHLIGHTS
- who: Elisabetta Di Fede from the Dipartimento di scienze per la promozione della salute e la cura della madre e del bambino "GD'Alessandro", Università di Palermo, Palermo, Italy have published the article: Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann⠍Steiner and Rubinstein⠍Taybi syndromes, in the Journal: (JOURNAL)
- how: The authors used next generation sequencing (either by custom-made panel or by whole exome) to identify alternative causative genes in individuals with a RSTS-like phenotype negative to CREBBP and EP300 mutational screening.
SUMMARY
Lysine . . .
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