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pro vyhledávání: '"Catarina Almqvist"'
Autor:
Johan Svensson, Christina Norrby, Agneta Nordenskjöld, Louise Frisén, Henrik Falhammar, Anna Nordenström, Catarina Almqvist, Svetlana Lajic
Publikováno v:
Yearbook of Paediatric Endocrinology.
Context Congenital adrenal hyperplasia (CAH) is a common monogenic recessive disorder. It has been suggested that CYP21A2 deficiency is common because carriers may have a survival advantage, 1 in 15,000 in most populations. Carriers of CYP21A2 mutati