P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
about
Development of adrenal cortex zonation.Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
P2860
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 16 December 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
@en
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
@nl
type
label
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
@en
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
@nl
prefLabel
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
@en
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
@nl
P356
P1476
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
@en
P2093
Berthold Hauffa
P356
10.1159/000321215
P50
P577
2010-12-16T00:00:00Z