Associated Papers
Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.
Balakrishnan ID et al.
Genetics in Medicine Open, 2024
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT et al.
Clinical Genetics, 2019
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL et al.
Journal of Medical Genetics, 2015
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