Condition: Isolated somatotropin deficiency


rs1425998598 in BPTF gene and Isolated somatotropin deficiency PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs104894229 in LRRC56;HRAS gene and Isolated somatotropin deficiency PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs1555453538 in POLG;MIR6766 gene and Isolated somatotropin deficiency PMID 23545419 2013 Clinical and molecular features of POLG-related mitochondrial disease.

PMID 20220442 2010 Polymerase gamma 1 mutations: clinical correlations.

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

rs1555970404 in ZNF711 gene and Isolated somatotropin deficiency PMID 27993705 2017 Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.