Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
about
De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development.A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.Novel SCC mutation in a patient of Mexican descent with sex reversal, salt-losing crisis and adrenal failure.
P2860
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
@en
type
label
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
@en
prefLabel
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
@en
P2093
P2860
P356
P1476
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
@en
P2093
Himangshu S Bose
Jasmeet Kaur
Luis Casas
P2860
P304
P356
10.1530/EDM-15-0119
P577
2016-03-02T00:00:00Z