Detection of Carriers for X-linked Ichthyosis by Southern Blot Analysis and Identification of One Family with a De Novo Mutation

Author:

Bonifas Jeannette M,Epstein Ervin H

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference41 articles.

1. Increased cholesterol sulfate content of stratum corneum in recessive X-linked ichthyosis;Williams;J Clin Invest,1981

2. Lipids in the pathogenesis of ichthyosis: topical cholesterol sulfate-induced scaling in hairless mice;Maloney;J Invest Dermatol,1984

3. X-linked ichthyosis due to steroid-sulphatase deficiency;Shapiro;Lancet,1978

4. Trophoblast sulphatase deficiency associated with X-chromosomal ichthyosis;Jobsis;Ned Tijdschr Geneeskd,1976

5. Steroid-sulfatase deficiency in sex-linked ichthyosis;Kubilus;Am J Hum Genet,1979

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1. X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients;Experimental Dermatology;2018-07-02

2. X-Linked Ichthyosis;Atlas of Genetic Diagnosis and Counseling;2017

3. X-Linked Ichthyosis;Atlas of Genetic Diagnosis and Counseling;2015

4. X-Linked Ichthyosis;Atlas of Genetic Diagnosis and Counseling;2012

5. Mendelian Disorders of Cornification (MEDOC): The Ichthyoses;Harper's Textbook of Pediatric Dermatology;2011-05-24

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