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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

Papers overview

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2013
2013
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
AbstractCongenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes. We studied a… 
2006
2006
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
We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to… 
1997
1997
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
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 have become important model systems for studying molecular, cellular, organ, and whole animal physiology. In… 
Highly Cited
1990
Highly Cited
1990
Fifty-seven Standardbred and 44 Thoroughbred racehorses and 1 Thoroughbred polo mare with primary clinical signs of exercise… 
Highly Cited
1987
Highly Cited
1987
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH…