Three Unusual Siblings with Harlequin Icthyosis in an Indian Family-Reference-Cited by-同舟云学术

Three Unusual Siblings with Harlequin Icthyosis in an Indian Family

Published:2000-09 Issue:9 Volume:27 Page:609-611
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Sarkar Rashmi¹,Sharma Ravi C.¹,Sethi Seema¹,Basu Srikanta¹,Das Rupam¹,Mendiratta Vibhu¹,Sardana Kabir¹,Kakar Nirupma¹

Affiliation:

1. Departments of Dermatology and Sexually Transmitted Diseases, Pathology and Paediatrics; Lady Hardinge Medical College & Associated S.S.K. and K.S.C. Hospitals; New Delhi 110001 India

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1346-8138.2000.tb02237.x/fullpdf

Reference6 articles.

1. Disorders of keratinisation;Griffith,1998

2. Harlequin fetus;Purohit;Indian Pediatr,1978

3. Icthyosis dermatosis: Report of harlequin fetus;Choudhry;Indian Pediatr,1975

4. Harlequin foetus in four siblings;Unamuno;Br J Dermatol,1987

5. Harlequin fetus successfully treated with etretinate;Lawlor;Br J Dermatol,1985

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1. Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis;International Journal of Dermatology;2018-01-29

2. Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis;PLOS ONE;2016-08-23

3. Endogenous β-glucocerebrosidase activity in Abca12epidermis elevates ceramide levels after topical lipid application but does not restore barrier function;Journal of Lipid Research;2014-03

4. Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction;Cell and Tissue Research;2012-08-04

5. Harlequin Ichthyosis;Atlas of Genetic Diagnosis and Counseling;2012