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X-linked adrenal hypoplasia congenita

Known as: Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism, ADDISON DISEASE, X-LINKED, Adrenal Hypoplasia, Congenital 
A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene… 
National Institutes of Health

Related topics

Related topics

7 relations
Abdominal CavityAdrenal GlandsEndocrine systemRetroperitoneal Space

Broader (3)

Adrenal gland hypofunctionCongenital hypoplasia of adrenal glandGenetic Diseases, X-Linked

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
X-Linked Adrenal Hypoplasia Congenita
Mutations in the NR0B1 gene cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a protein… 
Highly Cited
2007
Highly Cited
2007
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation
AbstractCongenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes. We studied a… 
2006
2006
DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
OBJECTIVE Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal hypoplasia congenita (AHC… 
Highly Cited
1997
Highly Cited
1997
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to… 
1997
1997
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
The DAX-1 [DSS (dosage sensitive sex)-AHC critical region on the X, gene 1] gene is responsible for X-linked adrenal hypoplasia… 
Highly Cited
1996
Highly Cited
1996
Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
The DAX-1 [DSS (dosage-sensitive sex)-AHC critical region in the X, gene 1] gene has been reported to be responsible for X-linked… 
Review
1996
Review
1996
Transgenic mice in the analysis of reproductive development and function.
Transgenic mice have become important model systems for studying molecular, cellular, organ, and whole animal physiology. In… 
Highly Cited
1990
Highly Cited
1990
Transendoscopic contact neodymium:yttrium aluminum garnet laser correction of epiglottic entrapment in standing horses.
Fifty-seven Standardbred and 44 Thoroughbred racehorses and 1 Thoroughbred polo mare with primary clinical signs of exercise… 
Highly Cited
1987
Highly Cited
1987
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH… 
1982
1982
CONCORDANCE OF X-LINKED GLYCEROL KINASE DEFICIENCY WITH X-LINKED CONGENITAL ADRENAL HYPOPLASIA
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