Hyperthrophic cardiomyopathy and thePTPN11 gene
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference12 articles.
1. Noonan syndrome.
2. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
3. Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene
4. Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: A boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
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1. PTPN11 c.853T > C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax;NAGOYA J MED SCI;2022
2. Cardio-Skeletal Muscle Disease Associated With Syndromes;Cardioskeletal Myopathies in Children and Young Adults;2017
3. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation inPTPN11;American Journal of Medical Genetics Part A;2015-08-19
4. The implication of coronary artery malformations and congenital heart disease on cardiomyopathy;Progress in Pediatric Cardiology;2014-12
5. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations;Human Mutation;2011-04-28
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