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Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene

✍ Scribed by Esden-Tempska, Zofia; Lewczuk, Anna; Tobias, Edward S.; Borozdin, Wiktor; Kohlhase, Juergen; Sworczak, Krzysztof

Book ID
127326647
Publisher
Walter de Gruyter GmbH & Co. KG
Year
2012
Tongue
English
Weight
61 KB
Volume
25
Category
Article
ISSN
0334-018X

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Mutations in NR0B1 (DAX1) and NR5A1 (SF1
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✍ James K. Phelan; Edward R.B. Mccabe πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 364 KB

Adrenal hypoplasia congenita (AHC) causes primary adrenal insufficiency due to the failure of development of the adrenal cortex. Clinical and pedigree data indicate that the condition is genetically heterogeneous. The predominant adrenal hypoplasia congenita locus, however, is the NR0B1 gene, at Xp2

Novel mutation of theDAX1 gene in a pati
Novel mutation of theDAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
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## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc