Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
about
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseDiagnosis of diseases of steroid hormone production, metabolism and action.Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.Evidence of adrenal failure in aging Dax1-deficient mice.Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Regulation of the adrenocortical stem cell niche: implications for diseaseRare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortPrimary adrenal insufficiency caused by a novel mutation in DAX1 geneMalformation syndromes associated with disorders of sex development.Perspectives in Pediatric Pathology, Chapter 15. Macrorchidism as the Expression of Several Congenital and Acquired Pathologies.Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases.Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.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.
P2860
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P2860
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Clinical and genetic heterogen ...... a due to NR0B1 gene mutations.
@en
Clinical and genetic heterogen ...... a due to NR0B1 gene mutations.
@nl
type
label
Clinical and genetic heterogen ...... a due to NR0B1 gene mutations.
@en
Clinical and genetic heterogen ...... a due to NR0B1 gene mutations.
@nl
prefLabel
Clinical and genetic heterogen ...... a due to NR0B1 gene mutations.
@en
Clinical and genetic heterogen ...... a due to NR0B1 gene mutations.
@nl
P2093
P1476
Clinical and genetic heterogen ...... a due to NR0B1 gene mutations.
@en
P2093
Alon Eliakim
David Gillis
Elka Bella Kosinovsky
Joseph Sack
Michal Sagi
Naomi Weintrob
Nurit Goldstein
Ruth Shomrat
Yair Anikster
Zohar Landau
P304
P356
10.1111/J.1365-2265.2009.03652.X
P577
2009-06-08T00:00:00Z