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Paper Details

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
American Journal of Medical Genetics, Part A
3
2022
ABCC9 gene, CS, Cant syndrome, KCNJ8, KCNJ8 gene variants, baby, cardiomegaly, congenital hypertrichosis, facial dysmorphisms, intellectual disability, learning difficulties, macrocephaly, multisystemic disorder, patient, patients, speech delay, vascular, and skeletal anomalies
Author NameAffiliation
Angelo SelicorniMariani Foundation Center for Fragile Child ASST-Lariana, Sant'Anna Hospital
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Datasets

Release 1.2