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European Journal of Human Genetics (2)
Nature Genetics (1)

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Pathogenesis

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Showing 1–3 of 3 results

Advanced filters: Author: Marina Murdolo Clear advanced filters

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Marcella Zollino and colleagues report mutations in the chromatin regulator KANSL1 in persons with 17q21.31 syndrome. This disorder is marked by distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior.

Marcella Zollino
Daniela Orteschi
Giuseppe Marangi
Research29 Apr 2012
Nature Genetics

Volume: 44, P: 636-638
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome

Marcella Zollino
Rosetta Lecce
Giovanni Neri
Research07 Jul 2004
European Journal of Human Genetics

Volume: 12, P: 797-804
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Concetta Cafiero
Giuseppe Marangi
Marcella Zollino
Research25 Feb 2015
European Journal of Human Genetics

Volume: 23, P: 1499-1504