Gas Chromatography–Mass Spectrometry and Molecular Genetic Studies in Families with the Conradi–Hünermann–Happle Syndrome

Author:

Has Cristina,Bruckner-Tuderman Leena,Traupe Heiko,Seedorf Udo,Kannenberg Frank,Folkers Elzo,Fölster-Holst Regina,Baric Ivo

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference28 articles.

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3. Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi–Hünermann syndrome;Braverman;Nat Genet,1999

4. Acute manifestations of Conradi–Hünermann syndrome in a male adult;Crovato;Arch Dermatol,1985

5. Clinical and biochemical spectrum of patients with the RSH/Smith–Lemli–Opitz syndrome and abnormal cholesterol metabolism;Cunniff;Am J Med Genet,1997

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