Smith-Lemli-Opitz syndrome: Molecular- genetic analysis of ten families

Authors

KOZÁK Libor FRANCOVÁ Hana HRABINCOVÁ Eva PROCHÁZKOVÁ Dagmar JUTTNEROVÁ věra BZDUCH Vladimír ŠIMEK Petr

Year of publication 2000
Type Article in Periodical
Magazine / Source J. Inherit. Metab. Dis.
MU Faculty or unit

Faculty of Medicine

Citation
Web http://www.jimd.org
Field Genetics and molecular biology
Keywords SLOS syndrome molecular analysis
Description Diagnosis of SLOS is extremely important for effective medical and genetic counseling of families, as well as for the prevention of severe clinical disorders and disability of patients

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