2 results match your criteria: "Telethon Children's Rehabilitation Centre (Centro de Rehabilitación e inclusión Infantil Teleton)[Affiliation]"
Pigmentation abnormalities in Coffin-Siris syndrome.
Clin Genet
September 2023
Telethon's Children's Rehabilitation Centre (Centro de Rehabilitación e Inclusión Infantil Teletón), Guerrero, Mexico.
Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients.
View Article and Find Full Text PDF"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".
Eur J Med Genet
November 2022
Telethon Children's Rehabilitation Centre (Centro de Rehabilitación e inclusión Infantil Teleton), Guerrero, Mexico; Medical Genetics, Sistemas Genómicos, Paterna, Spain. Electronic address:
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders registry by 2021. Pathogenic variants of ARID1A account for 7-8% of cases with CSS phenotype. Malignancy has been previously reported in six individuals with CSS associated with BAF mutations.
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