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Literature summary for 1.14.15.4 extracted from

  • Tonetto-Fernandes, V.; Lemos-Marini, S.H.; De Mello, M.P.; Ribeiro-Neto, L.M.; Kater, C.E.
    21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency (2008), J. Pediatr. Endocrinol. Metab., 21, 487-494.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information 11beta-hydroxylase deficiency combined with 21-hydroxylase deficiency leads to development of ambiguous genitalia and salt-loss with increased steroid, e.g. 11-deoxycortisol, contents, mutation in 11beta-hydroxylase partially causes congenital adrenal hyperplasia, phenotype, overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
11beta-hydroxylase
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Homo sapiens