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• Follicular atrophoderma in association with congenital pseudarthrosis of the tibia.

  Perkins W, Webb DW, White JE. Perkins W, et al. J R Soc Med. 1995 May;88(5):291P-292P. J R Soc Med. 1995. PMID: 7636827 Free PMC article.
• Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.

  Hoffmann A, Waśkiel-Burnat A, Żółkiewicz J, Blicharz L, Rakowska A, Goldust M, Olszewska M, Rudnicka L. Hoffmann A, et al. J Clin Med. 2021 Aug 30;10(17):3901. doi: 10.3390/jcm10173901. J Clin Med. 2021. PMID: 34501349 Free PMC article. Review.
• A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.

  Kidd A, Carson L, Gregory DW, de Silva D, Holmes J, Dean JC, Haites N. Kidd A, et al. J Med Genet. 1996 Jun;33(6):493-7. doi: 10.1136/jmg.33.6.493. J Med Genet. 1996. PMID: 8782050 Free PMC article.
• Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

  Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Bal E, et al. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. Nat Med. 2017. PMID: 28869610
• ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.

  Park HS, Papanastasi E, Blanchard G, Chiticariu E, Bachmann D, Plomann M, Morice-Picard F, Vabres P, Smahi A, Huber M, Pich C, Hohl D. Park HS, et al. Commun Biol. 2021 May 10;4(1):544. doi: 10.1038/s42003-021-02054-9. Commun Biol. 2021. PMID: 33972689 Free PMC article.