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Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.
Naeem M, John P, Ali G, Ahmad W. Naeem M, et al. Clin Exp Dermatol. 2007 Sep;32(5):502-5. doi: 10.1111/j.1365-2230.2007.02413.x. Epub 2007 May 8. Clin Exp Dermatol. 2007. PMID: 17489990
Ectodermal dysplasias (ED) are developmental disorders affecting tissues of ectodermal origin including hair, nail, teeth and sweat glands. To date, four different types of ectodermal dysplasias involving only hair and nails have been des …
Ectodermal dysplasias (ED) are developmental disorders affecting tissues of ectodermal origin including hair, nail, tee …
Family with "pure" hair-nail ectodermal dysplasia.
Barbareschi M, Cambiaghi S, Crupi AC, Tadini G. Barbareschi M, et al. Am J Med Genet. 1997 Oct 3;72(1):91-3. doi: 10.1002/(sici)1096-8628(19971003)72:1<91::aid-ajmg19>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9295083
Two different pure ectodermal dysplasias involving only hair and nails have been described to date. ...Thus the reported patients could represent a new type of pure ectodermal dysplasia....
Two different pure ectodermal dysplasias involving only hair and nails have been described to date. ...Thus the …
Hair-nail dysplasia--a new pure autosomal dominant ectodermal dysplasia.
Pinheiro M, Freire-Maia N. Pinheiro M, et al. Clin Genet. 1992 Jun;41(6):296-8. doi: 10.1111/j.1399-0004.1992.tb03401.x. Clin Genet. 1992. PMID: 1623625
An apparently hitherto undescribed pure ectodermal dysplasia of the tricho-onychic subgroup is described. ...This report increases the number of conditions of the tricho-onychic subgroup to 19, and the total number of ectodermal dysplasias to 155....
An apparently hitherto undescribed pure ectodermal dysplasia of the tricho-onychic subgroup is described. ...This repor …
Pure ectodermal dysplasia: retrospective study of 16 cases and literature review.
Ruhin B, Martinot V, Lafforgue P, Catteau B, Manouvrier-Hanu S, Ferri J. Ruhin B, et al. Cleft Palate Craniofac J. 2001 Sep;38(5):504-18. doi: 10.1597/1545-1569_2001_038_0504_pedrso_2.0.co_2. Cleft Palate Craniofac J. 2001. PMID: 11522173 Review.
OBJECTIVE: To review the possible craniomaxillofacial deformative consequences associated with ectodermal dysplasias and embryonic malformations, which include dental ageneses. ...PATIENTS: Sixteen patients (seven boys and nine girls, aged 4 to 34 years) with pure …
OBJECTIVE: To review the possible craniomaxillofacial deformative consequences associated with ectodermal dysplasias and embryonic ma …
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.
Farooq M, Kurban M, Fujimoto A, Fujikawa H, Abbas O, Nemer G, Saliba J, Sleiman R, Tofaili M, Kibbi AG, Ito M, Shimomura Y. Farooq M, et al. Hum Mutat. 2013 Apr;34(4):578-81. doi: 10.1002/humu.22271. Epub 2013 Mar 5. Hum Mutat. 2013. PMID: 23315978
Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or complete alopecia, as well as nail dystrophy. ...Our results strongly suggest crucial roles of the HOXC13 gene in the development of hair …
Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or com …
Ectodermal dysplasias.
Itin PH, Fistarol SK. Itin PH, et al. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):45-51. doi: 10.1002/ajmg.c.30033. Am J Med Genet C Semin Med Genet. 2004. PMID: 15468153 Review.
Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally …
Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal …
12 results