PMID 11095425 2000 Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism.
PMID 11746019 2001 Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism.
rs1057516033 in
KAT6B gene and
Cryptorchidism
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1480612338 in
LOC105369759;DHH gene and
Cryptorchidism
PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.
rs121918459 in
PTPN11 gene and
Cryptorchidism
PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
PMID 24077912 2014 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.