DOI:
10.1055/s-00000041
Neuropediatrics
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References
Koenig A, Happle R, Bornholdt D, Engel H, Grzeschik KH.
Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome.
Am J Med Genet 2000; 90: 339-346
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