共 50 条
- [31] A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review BMC Endocrine Disorders, 21
- [32] Variability of the Noonan syndrome phenotypic spectrum in four patients carrying novel LZTR1 gene variants HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 295 - 296
- [34] Unique proteomic signatures of Noonan Syndrome-associated LZTR1 variants detected by phosphopeptide analysis HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 300 - 300
- [36] Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants MOLECULAR THERAPY NUCLEIC ACIDS, 2024, 35 (01):
- [40] Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive Form Associated With LZTR1 Variants HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 446 - 446