Garavelli, Livia

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 06 2017 - 691-700 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1530-0366

10.1038/gim.2016.176 doi


Brain--diagnostic imaging
Child
Child, Preschool
Cohort Studies
Epilepsy--pathology
Facies
Female
Genotype
Haploinsufficiency
Hirschsprung Disease--diagnostic imaging
Humans
Infant
Intellectual Disability--diagnostic imaging
Longitudinal Studies
Magnetic Resonance Imaging
Male
Microcephaly--diagnostic imaging
Neuroimaging
Phenotype
Zinc Finger E-box Binding Homeobox 2--genetics