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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.
2008
2008
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects
We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This… 
2000
2000
An Atypical Kindred with X-linked Adrenal Hypoplasia Congenita, Normal Puberty, and Normal Dax-1 Promoter and Coding Sequence
We report a Chinese kindred with an atypical sex-linked form of isolated adrenal hypoplasia without hypogonadotropic hypogonadism… 
2000
2000
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum.
A 27-year-old female is described with Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum… 
1998
1998
Sardis Roma-Bizans toplumlarında diş hastalıkları ve ağız sağlığı
Lidya Kralligina baskentlik yapan, Izmir-Afyon karayolu uzerinde ve Izmir'e 65 km. uzaklikta bulunan Sardis, Anadolunun en onemli… 
Review
1996
Review
1996
Lumpers, splitters, and FGFRs.
The Rapid Publication paper by Cohen on the mutational basis of craniosynostosis is a thorough review of the recent work of our… 
Review
1988
Review
1988
Total laryngotracheal hypoplasia in a case of G syndrome
We report a case of congenital hypoplasia of the larynx and trachea in the presence of an essentially normal cartilaginous… 
1986
1986
Bilateral first-rib hypoplasia: a new feature of the nail-patella syndrome.
Bilateral first-rib hypoplasia, a skeletal anomaly not previously associated with the nail-patella syndrome, is reported… 
1977
1977
Sudden infant death due to congenital adrenal hypoplasia.
Adrenocortical hypoplasia was found to be the cause of sudden death in a 9-month-old infant. Most sudden infant deaths in the… 
Review
1967
Review
1967
"Pure" red cell anemia (erythroblastic hypoplasia) and thymoma.
1950
1950
[Unilateral hepatic agenesia or lobar hypoplasia? Studies on the morphology and pathogenesis of several typical malformations of the liver, and their relation to the theory of bilaterality].