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Article

Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.

Hormone research in paediatrics - 1 Jan 2017

Grosse Greta, Hilger Alina, Ludwig Michael, Reutter Heiko, Lorenzen Franziska, Even Gertrud, Holterhus Paul-Martin, Woelfle Joachim

Abstract excerpt

BACKGROUND/AIMS: To elucidate the genetic causes of severe primary insulin-like growth factor-I deficiency (SPIGFD) by systematic, targeted, next-generation sequencing (NGS)-based resequencing of growth-related genes. METHODS: Clinical phenotyping followed by NGS in 17 families including 6 affected sib pairs. RESULTS: We identified disease-causing, heterozygous, de novo variants in HRAS (p.Gly13Cys) and FAM111A...

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Source

Identifiers

PMID: 29073591
DOI: 10.1159/000480505

Genes

HRAS
GHR
IGF2
SOCS2

Variants

Provenance

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