Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients

Author:

Ahn JungminORCID,Oh JiyoungORCID,Suh JunghwanORCID,Song KyungchulORCID,Kwon Ahreum,Chae Hyun WookORCID,Oh Jun Suk,Lee Hae In,Lee Myeong SeobORCID,Kim Ho-Seong

Publisher

Elsevier BV

Subject

Endocrinology,Molecular Biology,Biochemistry

Reference32 articles.

1. Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature;Amano;J. Clin. Endocrinol. Metab.,2014

2. Homozygous and compound heterozygous mutations in the FBN1gene: unexpected findings in molecular diagnosis of Marfan syndrome;Arnaud;J. Med. Genet.,2017

3. Mutation spectrum and phenotypic features in Noonan syndrome with PTPN11 mutations: definition of two novel mutations;Atik;Indian J. Pediatr.,2016

4. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes;Bezniakow;Dev. Period. Med.,2014

5. Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias;Briggs;Eur. J. Hum. Genet.,2014

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