Pubblicazioni

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Rossi-Espagnet, M. C.; Dentici, M. L.; Pasquini, L.; Carducci, C.; Lucignani, M.; Longo, D.; Agolini, E.; Novelli, A.; Gonfiantini, M. V.; Digilio, M. C.; Napolitano, A.; Bartuli, A.

A novel patient with WhiteâSutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Pascolini, G.; Agolini, E.; Fleischer, N.; Gulotta, E.; Cesario, C.; D'Elia, G.; Novelli, A.; Majore, S.; Grammatico, P.

Pubblicazioni

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl

A novel patient with WhiteâSutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

A novel patient with WhiteâSutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations