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

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Presentation on theme: "A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis  Muhammad Arshad Rafiq, Muhammad."— Presentation transcript:

1 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 (July 2004) DOI: /j X x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

2 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  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions


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