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Hypohidrotic Ectodermal Dysplasia, Recessive

MedGen UID:
893648
Concept ID:
CN239465
Disease or Syndrome
 

Recent clinical studies

Etiology

Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Roberts CM, Angus JE, Leach IH, McDermott EM, Walker DA, Ravenscroft JC
Eur J Pediatr 2010 Nov;169(11):1403-7. Epub 2010 May 21 doi: 10.1007/s00431-010-1206-7. PMID: 20499091
Suda N, Bazar A, Bold O, Jigjid B, Garidkhuu A, Ganburged G, Moriyama K
Orthod Craniofac Res 2010 May;13(2):114-7. doi: 10.1111/j.1601-6343.2010.01484.x. PMID: 20477971
Gros CI, Clauss F, Obry F, Manière MC, Schmittbuhl M
Oral Dis 2010 Apr;16(3):292-8. doi: 10.1111/j.1601-0825.2009.01641.x. PMID: 20374512
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M
Clin Genet 2010 Sep;78(3):257-66. Epub 2010 Feb 24 doi: 10.1111/j.1399-0004.2010.01376.x. PMID: 20236127

Diagnosis

Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Henningsen E, Svendsen MT, Lildballe DL, Jensen PK
Am J Med Genet A 2014 Aug;164A(8):2059-61. Epub 2014 Apr 24 doi: 10.1002/ajmg.a.36582. PMID: 24764207
Suda N, Bazar A, Bold O, Jigjid B, Garidkhuu A, Ganburged G, Moriyama K
Orthod Craniofac Res 2010 May;13(2):114-7. doi: 10.1111/j.1601-6343.2010.01484.x. PMID: 20477971
Gros CI, Clauss F, Obry F, Manière MC, Schmittbuhl M
Oral Dis 2010 Apr;16(3):292-8. doi: 10.1111/j.1601-0825.2009.01641.x. PMID: 20374512
Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E
Arch Dermatol Res 2010 May;302(4):307-10. Epub 2009 Dec 24 doi: 10.1007/s00403-009-1013-z. PMID: 20033817

Therapy

Stagi S, Lapi E, Sani I, Bindi G, Quaranta MR, Salti R, Chiarelli F
J Pediatr Endocrinol Metab 2009 Sep;22(9):853-8. PMID: 19960895
Madana J, Yolmo D, Gopalakrishnan S, Saxena SK, Nath AK, Ilamaran V
Int J Pediatr Otorhinolaryngol 2009 Oct;73(10):1467-9. Epub 2009 Jul 18 doi: 10.1016/j.ijporl.2009.06.012. PMID: 19616858

Prognosis

Fujikawa H, Farooq M, Fujimoto A, Ito M, Shimomura Y
Br J Dermatol 2013 Mar;168(3):629-33. Epub 2012 Dec 13 doi: 10.1111/bjd.12018. PMID: 22924441
Singh R, Rohilla RK, Siwach R, Sen R, Kaur K
Orthop Surg 2011 Feb;3(1):78-81. doi: 10.1111/j.1757-7861.2010.00111.x. PMID: 22009985
Madana J, Yolmo D, Gopalakrishnan S, Saxena SK, Nath AK, Ilamaran V
Int J Pediatr Otorhinolaryngol 2009 Oct;73(10):1467-9. Epub 2009 Jul 18 doi: 10.1016/j.ijporl.2009.06.012. PMID: 19616858
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J
Nat Genet 1999 Aug;22(4):366-9. doi: 10.1038/11937. PMID: 10431241
Monreal AW, Zonana J, Ferguson B
Am J Hum Genet 1998 Aug;63(2):380-9. doi: 10.1086/301984. PMID: 9683615Free PMC Article

Clinical prediction guides

Fujikawa H, Farooq M, Fujimoto A, Ito M, Shimomura Y
Br J Dermatol 2013 Mar;168(3):629-33. Epub 2012 Dec 13 doi: 10.1111/bjd.12018. PMID: 22924441
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M
Clin Genet 2010 Sep;78(3):257-66. Epub 2010 Feb 24 doi: 10.1111/j.1399-0004.2010.01376.x. PMID: 20236127
Gündüz Arslan S, Devecioğlu Kama J, Ozer T, Yavuz I
Dentomaxillofac Radiol 2007 Dec;36(8):478-83. doi: 10.1259/dmfr/28789331. PMID: 18033944
Lind LK, Stecksén-Blicks C, Lejon K, Schmitt-Egenolf M
BMC Med Genet 2006 Nov 24;7:80. doi: 10.1186/1471-2350-7-80. PMID: 17125505Free PMC Article
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J
Nat Genet 1999 Aug;22(4):366-9. doi: 10.1038/11937. PMID: 10431241

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