| 1 | CDSN, HTSS1
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| A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
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| Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G.
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| FASEB J ASEB J. 2010 May 6. [Epub ahead of print]PMID: 20448140 2010
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| 2 | CDSN, HTSS1
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| Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
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| Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nothen MM, Pras E.
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| Nat Genet 34(2):151-3. 2003
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| 3 | HTSS1
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| A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21.3.
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| Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nothen MM.
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| Am J Hum Genet 66(6):1979-1983. 2000
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