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• Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.

  Pavone P, Pappalardo XG, Ohazuruike UNN, Striano P, Parisi P, Corsello G, Marino SD, Ruggieri M, Parano E, Falsaperla R. Pavone P, et al. J Epilepsy Res. 2020 Dec 31;10(2):84-91. doi: 10.14581/jer.20014. eCollection 2020 Dec. J Epilepsy Res. 2020. PMID: 33659201 Free PMC article.
• Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.

  DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM. DeStefano GM, et al. Proc Natl Acad Sci U S A. 2013 May 7;110(19):7790-5. doi: 10.1073/pnas.1216412110. Epub 2013 Apr 19. Proc Natl Acad Sci U S A. 2013. PMID: 23603273 Free PMC article.
• Childhood hypertrichosis: diagnosis and management.

  Baumeister FA, Schwarz HP, Stengel-Rutkowski S. Baumeister FA, et al. Arch Dis Child. 1995 May;72(5):457-9. doi: 10.1136/adc.72.5.457. Arch Dis Child. 1995. PMID: 7618920 Free PMC article. Review. No abstract available.
• A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

  Cantú JM, García-Cruz D, Sánchez-Corona J, Hernández A, Nazará Z. Cantú JM, et al. Hum Genet. 1982;60(1):36-41. doi: 10.1007/BF00281261. Hum Genet. 1982. PMID: 7076246 No abstract available.
• Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

  DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM. DeStefano GM, et al. PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014. PLoS Genet. 2014. PMID: 24831815 Free PMC article.