Whole exome sequencing in familial isolated primary hyperparathyroidism
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-019-01107-5
Abstract: Purpose Familial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% of all cases of primary hyperparathyroidism (PHPT). It is genetically heterogeneous being associated with mutations in different genes, including MEN1 , CDC73… read more here.
Keywords: exome sequencing; primary hyperparathyroidism; hyperparathyroidism; disease ... See more keywords
A Novel Mutation of Aryl Hydrocarbon Receptor Interacting Protein Gene Associated with Familial Isolated Pituitary Adenoma Mediates Tumor Invasion and Growth Hormone Hypersecretion.
Sign Up to like & getrecommendations! Published in 2019 at "World neurosurgery"
DOI: 10.1016/j.wneu.2018.11.021
Abstract: BACKGROUND Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene were identified in nearly 20% of families with familial isolated pituitary adenoma. Some variants of AIP have been confirmed to induce tumor cell proliferation… read more here.
Keywords: pituitary adenoma; isolated pituitary; group; familial isolated ... See more keywords
Familial isolated acanthosis nigricans due to a recurrent FGFR3 truncating mutation.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llad078
Abstract: Few cases of isolated (non-syndromic, non-endocrinopathy) cases of familial acanthosis nigricans (FAN) have been described, and most without genetic testing. We present a three-generation family with isolated FAN, whose genetic study revealed an heterozygous FGFR3… read more here.
Keywords: acanthosis; familial isolated; acanthosis nigricans; isolated acanthosis ... See more keywords