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)
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Adrenal steroidogenesis and congenital adrenal hyperplasia.Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.The Genetic and Environmental Factors Underlying Hypospadias.A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene
P2860
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)
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name
Delayed diagnosis of adrenal i ...... ) mutations (p.R360W; p.R405X)
@ast
Delayed diagnosis of adrenal i ...... ) mutations (p.R360W; p.R405X)
@en
type
label
Delayed diagnosis of adrenal i ...... ) mutations (p.R360W; p.R405X)
@ast
Delayed diagnosis of adrenal i ...... ) mutations (p.R360W; p.R405X)
@en
prefLabel
Delayed diagnosis of adrenal i ...... ) mutations (p.R360W; p.R405X)
@ast
Delayed diagnosis of adrenal i ...... ) mutations (p.R360W; p.R405X)
@en
P2093
P2860
P356
P1476
Delayed diagnosis of adrenal i ...... ) mutations (p.R360W; p.R405X)
@en
P2093
Angel O K Chan
Angela E Taylor
Ian T Rose
Silvia Parajes
Vivek Dhir
P2860
P304
P356
10.1530/EJE-12-0450
P577
2012-09-11T00:00:00Z