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Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia
- Source :
- Endocrine journal. 65(3)
- Publication Year :
- 2017
-
Abstract
- Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for
- Subjects :
- 0301 basic medicine
Adult
Male
Genotype
Endocrinology, Diabetes and Metabolism
030209 endocrinology & metabolism
Biology
medicine.disease_cause
Compound heterozygosity
03 medical and health sciences
symbols.namesake
0302 clinical medicine
Endocrinology
Germline mutation
Adrenal Glands
medicine
Humans
Genetic Predisposition to Disease
Gene
Cushing Syndrome
Aged
Sanger sequencing
Whole genome sequencing
Genetics
Armadillo Domain Proteins
Mutation
Whole Genome Sequencing
Tumor Suppressor Proteins
Middle Aged
Pedigree
030104 developmental biology
Macronodular Adrenal Hyperplasia
symbols
Female
Tomography, X-Ray Computed
Subjects
Details
- ISSN :
- 13484540
- Volume :
- 65
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Endocrine journal
- Accession number :
- edsair.doi.dedup.....edb0bd88ca9cc7a9a54942b3ebaba6b9