X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.
about
Karyotypic polymorphism of the zebra finch Z chromosomeMultigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency.Embryological and molecular development of the adrenal glands.Non-coding variation in disorders of sex development.Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.Role of Orphan Nuclear Receptor DAX-1/NR0B1 in Development, Physiology, and Disease
P2860
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P2860
X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.
description
2009 nî lūn-bûn
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name
X-linked congenital adrenal hy ...... ream of the NR0B1 (DAX1) gene.
@en
X-linked congenital adrenal hy ...... element upstream of the NR0B1
@nl
type
label
X-linked congenital adrenal hy ...... ream of the NR0B1 (DAX1) gene.
@en
X-linked congenital adrenal hy ...... element upstream of the NR0B1
@nl
prefLabel
X-linked congenital adrenal hy ...... ream of the NR0B1 (DAX1) gene.
@en
X-linked congenital adrenal hy ...... element upstream of the NR0B1
@nl
P2093
P356
P1476
X-linked congenital adrenal hy ...... ream of the NR0B1 (DAX1) gene.
@en
P2093
Aage Erichsen
Beate Skinningsrud
Eli Ormerod
Eystein S Husebye
Gregor D Gilfillan
Kristina Gervin
Thore Egeland
P304
P356
10.1210/JC.2009-0923
P407
P577
2009-09-22T00:00:00Z