Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome
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DOI: 10.1016/j.isci.2021.103596
Abstract: Summary Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with significant morbidity and mortality in early life, particularly in patients with Noonan syndrome, a multisystemic genetic disorder caused by autosomal dominant mutations in genes of… read more here.
Keywords: cycle defects; associated noonan; cell cycle; childhood onset ... See more keywords
Mutation in the ADNP gene associated with Noonan syndrome features
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DOI: 10.1097/mcd.0000000000000215
Abstract: Department of Medical and Metabolic Genetics, McGill University Health Centre, Montreal, Quebec, The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Department of Clinical and Metabolic Genetics, The Hospital… read more here.
Keywords: gene associated; mutation adnp; genetics; department ... See more keywords