Daniela Santodirocco

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan P. Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco et autres

PURPOSE: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate …

it, rs, Égypte, us, pl, dk, be, gb, fr, de, hr, es, nl, br, ch (code pays fourni par la source)

Clinical findings in Mowat-Wilson syndrome: a study of 80 patients

Livia Garavelli, Ivan P. Ivanovski, SG Caraffi, Daniela Santodirocco et autres

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

Livia Garavelli, Ivan P. Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco et autres

PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no …

it, sa, Égypte, us, dk, be, rs, gb, fr, tr, de, es, br (code pays fourni par la source)

RIN2 syndrome: Expanding the clinical phenotype

Simonetta Rosato, Delfien Syx, Ivan P. Ivanovski, Marzia Pollazzon et autres

Biallelic defects in the RIN2 gene, encoding the Ras and Rab interactor 2 protein, are associated with a rare autosomal recessive connective tissue disorder, with only nine patients from four independent families reported to date. The condition was initially termed MACS syndrome …

be, it (code pays fourni par la source)