Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

Nancy Braverman, Paul Lin, Fabian F. Moebius, Cassandra Obie, Ann B. Moser, Hartmut Glossmann, William R. Wilcox, David L. Rimoin, Moyra Smith, Lisa E. Kratz,

Nature Genetics · 1999 · 285 citations · 24 references

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