A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis Muhammad Arshad Rafiq, Muhammad.

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A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis Muhammad Arshad Rafiq, Muhammad Ansar, Saqib Mahmood, Sayedul Haque, Muhammad Faiyaz-ul-Haque, Suzanne M. Leal, Wasim Ahmad Journal of Investigative Dermatology Volume 123, Issue 1, Pages 247-248 (July 2004) DOI: 10.1111/j.0022-202X.2004.22715.x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical presentation (above) of the hypotrichosis phenotype from previously reported family LAP3. DSG4 deletion (below) located in introns 4 and 8. Arrow indicates the breakpoint region. Journal of Investigative Dermatology 2004 123, 247-248DOI: (10.1111/j.0022-202X.2004.22715.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions