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. 2004 Jul;123(1):247-8.
doi: 10.1111/j.0022-202X.2004.22715.x.

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

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis

Muhammad Arshad Rafiq et al. J Invest Dermatol. 2004 Jul.
No abstract available

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Figures

Figure 1
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.
See this image and copyright information in PMC

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