Article
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
Hormone research in paediatrics - 1 Jan 2010
de Graaff Laura C G, Argente Jesús, Veenma Danielle C M, Drent Madeleine L, Uitterlinden André G, Hokken-Koelega Anita C S
Abstract excerpt
BACKGROUND/AIMS: Mutation frequencies of genes involved in combined pituitary hormone deficiency (CPHD) vary substantially between populations. The HYPOPIT study aims to obtain an overall picture of known and new genetic defects and variations in a nationwide cohort of Dutch (mostly) sporadic CPHD patients. METHODS: We screened 79 CPHD patients from 78 families (regardless of MRI and hormonal phenotype) for...
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