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A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

✍ Scribed by Francis, F.; Hennig, S.; Korn, B.; Reinhardt, R.; de Jong, P.; Poustka, A.; Lehrach, H.; Rowe, P.S.N; Goulding, J.N.; Summerfield, T.


Book ID
109918265
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
901 KB
Volume
11
Category
Article
ISSN
1061-4036

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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