| 1 | DSG4, LAH1
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| Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
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| Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM.
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| J Invest Dermatol 127(7):1779-82. Epub 2007 Mar 29. No abstract available. 2007
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| 2 | LAH1, DSG4
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| Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.
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| Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM.
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| J Invest Dermatol 126(6):1286-91. 2006
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| 3 | DSG4, LAH1
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| Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.
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| John P, Tariq M, Arshad Rafiq M, Amin-Ud-Din M, Muhammad D, Waheed I, Ansar M, Ahmad W.
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| Arch Dermatol Res 298(3):135-7. Epub 2006 Jun 13. 2006
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| 4 | DSG4
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| Genetic evidence for a novel human desmosomal cadherin, desmoglein 4.
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| Whittock NV, Bower C.
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| J Invest Dermatol 120(4):523-30. 2003
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| 5 | DSG4,LAH1
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| A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.
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| Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad W.
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| Eur J Hum Genet 11(8):623-8. 2003
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| 6 | DSG4,LAH1
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| Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
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| Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM.
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| Cell 113(2):249-60. 2003
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