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Page 1
Focal dermal hypoplasia: updates.
Wang L, Jin X, Zhao X, Liu D, Hu T, Li W, Jiang L, Dan H, Zeng X, Chen Q. Wang L, et al. Oral Dis. 2014 Jan;20(1):17-24. doi: 10.1111/odi.12083. Epub 2013 Mar 6. Oral Dis. 2014. PMID: 23463902 Review.
Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. ...
Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. ..
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Mary L, Scheidecker S, Kohler M, Lombardi MP, Delezoide AL, Auberger E, Triau S, Colin E, Gerard M, Grzeschik KH, Dollfus H, Antal MC. Mary L, et al. Am J Med Genet A. 2017 Feb;173(2):479-486. doi: 10.1002/ajmg.a.37974. Epub 2016 Sep 13. Am J Med Genet A. 2017. PMID: 27623003 Review.
Focal dermal hypoplasia (FDH) is a rare syndrome characterized by pleiotropic features knowing to involve mostly skin and limbs. ...
Focal dermal hypoplasia (FDH) is a rare syndrome characterized by pleiotropic features knowing to involve mostly skin a
Focal dermal hypoplasia: a case report and literature review.
Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL. Murakami C, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011. PMID: 21684779 Review.
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is an autosomal dominant disease affecting tissues derived from the ectoderm and mesoderm. ...
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is an autosomal dominant disease affecting tissues
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. Lee BH, et al. J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29. J Med Genet. 2017. PMID: 28663233 Review.
Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scar-like' facial lesions. ...Familiarity with the FFDDs by clinicians will further delineate the phenotypes and genetic/developmental defects of these der
Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scar-like' facial
Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.
Peters T, Perrier R, Haber RM. Peters T, et al. Pediatr Dermatol. 2014 Mar-Apr;31(2):220-4. doi: 10.1111/pde.12267. Epub 2014 Jan 5. Pediatr Dermatol. 2014. PMID: 24387693 Review.
Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. ...The phenotype is highly variable, although all d
Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant
Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.
Rohdenburg C, Liersch J, Kutsche K, Schaller J. Rohdenburg C, et al. Am J Dermatopathol. 2020 Sep;42(9):653-661. doi: 10.1097/DAD.0000000000001579. Am J Dermatopathol. 2020. PMID: 31789838
Goltz-Gorlin syndrome (GGS) (focal dermal hypoplasia) is a very rare developmental disorder affecting ectodermal and mesodermal structures. ...Histopathological examinations of skin biopsies of affected individuals typically show focal dermal
Goltz-Gorlin syndrome (GGS) (focal dermal hypoplasia) is a very rare developmental disorder affecting ectodermal and me …
Goltz syndrome and PORCN: A view from Europe.
Happle R. Happle R. Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):21-3. doi: 10.1002/ajmg.c.31469. Epub 2016 Jan 22. Am J Med Genet C Semin Med Genet. 2016. PMID: 26799923 Review.
Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant, multisystem birth defect with lethality for male embryos. ...
Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant, multisystem birth defect with lethality for male embr …
Odyssey toward an understanding of acquired postinflammatory lentiginosis.
Yan AC. Yan AC. Curr Opin Pediatr. 2021 Dec 1;33(6):704-708. doi: 10.1097/MOP.0000000000001064. Curr Opin Pediatr. 2021. PMID: 34734917 Review.
RECENT FINDINGS: Although some cases have been described as arising exclusively in those who applied topical calcineurin inhibitors (TCIs), other patients have presented with similar findings in other nonatopic disorders (contact dermatitis, psoriasis, lichen planus, focal
RECENT FINDINGS: Although some cases have been described as arising exclusively in those who applied topical calcineurin inhibitors (TCIs), …
[X-chromosome-linked hereditary dermatoses].
Happle R. Happle R. Hautarzt. 1982 Feb;33(2):73-81. Hautarzt. 1982. PMID: 6804414 Review. German.
The group of X-linked dominant gene defects with lethality in the male comprises incontinentia pigmenti, focal dermal hypoplasia, the oral-facial-digital syndrome and the CHILD syndrome. Prenatal diagnosis of severe X-linked conditions can be performed when t …
The group of X-linked dominant gene defects with lethality in the male comprises incontinentia pigmenti, focal dermal hypop
Focal dermal hypoplasia: oral and dental findings.
Tejani Z, Batra P, Mason C, Atherton D. Tejani Z, et al. J Clin Pediatr Dent. 2005 Fall;30(1):67-72. doi: 10.17796/jcpd.30.1.q737147154231251. J Clin Pediatr Dent. 2005. PMID: 16302603 Free article. Review.
Focal Dermal Hypoplasia/Goltz Gorlin syndrome is a rare syndrome characterized by widespread dysplasia affecting tissues of mesodermal and ectodermal origin with cutaneous, osseous, ocular, oral and dental defects. ...This article reviews the reported dental
Focal Dermal Hypoplasia/Goltz Gorlin syndrome is a rare syndrome characterized by widespread dysplasia affecting tissue
50 results