Visit Metagene.de!
Summary
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB IGHD1B
IGHD IB
612781
OMIM = Online Medalian Inheritance of Men
231671
17q23.3
rare
autosomal recessive
mutation in the GH1 gene
symptoms
growth retardation, poor growth
onset, infancy
onset, neonatal
short stature
laboratory finding
Insulin-like growth factor I(IGF-I) ng/mlurine
Literature
Tatton-Brown K,Cole TRP, Rahman NSotos SyndromeGeneReviews-« Internet002015
Eggermann T,et al.Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingEur J Hum Genet246784-7932016