Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 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

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

PubMed Disclaimer

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.

Similar articles

Cited by

References

    1. Calvanico NJ, Martins CR, Diaz LA: Characterization of pemphigus foliaceus antigen from human epidermis. J Invest Dermatol 96:815–821, 1991 - PubMed
    1. Grunwald GB: The structural and functional analysis of cadherin calcium dependent cell adhesion molecules. Curr Opin Cell Biol 5:797–805, 1993 - PubMed
    1. Hashimoto T, Kiyokawa C, Mori O, et al.: Human desmocollin 1 (Dsc1) is an auto-antigen for the subcorneal pustular dermatosis type of IgA pemphigus. J Invest Dermatol 109:127–131, 1997 - PubMed
    1. Karpati S, Amagai M, Prussick R, Stanley JR: Pemphigus vulgaris antigen is a desmosomal desmoglein. Dermatology 189:24–26, 1994 - PubMed
    1. Kljuic A, Bazzi H, Sundberg JP, et al.: Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113:249–260, 2003 - PubMed

Publication types