Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes
نویسندگان
چکیده
منابع مشابه
Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes.
Carney complex is a multiple endocrine neoplasia (MEN) syndrome that affects the adrenal cortex, the pituitary and thyroid glands, and the gonads. The complex is also associated with skin and mucosa pigmentation abnormalities and myxoid and other neoplasms of mesenchymal and neural crest origin. Thus, this syndrome also belongs to another group of genetic disorders, the lentiginoses (or lentige...
متن کاملA case of familial Carney complex.
Carney complex is a syndrome characterized by skin pigmentation abnormalities, myxomas, endocrine tumors/overactivity, and schwannomas. It is caused by a mutation in the PRKAR1A gene that encodes the enzyme protein kinase A regulatory subunit type 1 alpha. A 23-year old male was diagnosed with Carney complex on the basis of spotty skin lentigines on his face and lips, multiple thyroid neoplasms...
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Pituitary adenomas are a common feature of a subset of endocrine neoplasia syndromes, which have otherwise highly variable disease manifestations. We provide here a review of the clinical features and human molecular genetics of multiple endocrine neoplasia (MEN) type 1 and 4 (MEN1 and MEN4, respectively) and Carney complex (CNC). MEN1, MEN4, and CNC are hereditary autosomal dominant syndromes ...
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ژورنال
عنوان ژورنال: Frontiers in Bioscience
سال: 2000
ISSN: 1093-9946,1093-4715
DOI: 10.2741/stratakis