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25. Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Smigiel R; Jakubiak A; Lombardi MP; Jaworski W; Slezak R; Patkowski D; Hennekam RC Am J Med Genet A; 2011 May; 155A(5):1102-5. PubMed ID: 21484999 [TBL] [Abstract][Full Text] [Related]
26. Focal dermal hypoplasia. Goltz syndrome. A case report. Adornato MC; Perras S; Penna KJ N Y State Dent J; 2001 Jan; 67(1):30-2. PubMed ID: 11221530 [TBL] [Abstract][Full Text] [Related]
30. Severe focal dermal hypoplasia in a female patient transmitted from a mildly affected mother. Shimaoka Y; Hatamochi A; Hamasaki Y; Shimura N; Arisaka O; Imai Y; Yamazaki S J Dermatol; 2009 Mar; 36(3):181-3. PubMed ID: 19335698 [No Abstract] [Full Text] [Related]
31. Multiple mesoectodermal defects in an infant. Focal dermal hypoplasia syndrome, or Goltz' syndrome. Billings JK; Milgraum SS; Rasmussen JE Arch Dermatol; 1986 Oct; 122(10):1200, 1203. PubMed ID: 3767408 [No Abstract] [Full Text] [Related]
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33. A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. Maalouf D; Mégarbané H; Chouery E; Nasr J; Badens C; Lacoste C; Grzeschik KH; Mégarbané A Arch Dermatol; 2012 Jan; 148(1):85-8. PubMed ID: 22250236 [TBL] [Abstract][Full Text] [Related]
34. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. Gisseman JD; Herce HH Am J Med Genet C Semin Med Genet; 2016 Mar; 172C(1):59-63. PubMed ID: 27001926 [TBL] [Abstract][Full Text] [Related]
35. A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. Lasocki AL; Stark Z; Orchard D Australas J Dermatol; 2011 Feb; 52(1):48-51. PubMed ID: 21332693 [TBL] [Abstract][Full Text] [Related]
36. Triophthalmia and facial clefting: a case report. Tayel SM; Sabry MA; Kader NA; Farah S; Al-Awadi SA; Farag TI J Med Genet; 1998 Oct; 35(10):875-7. PubMed ID: 9783717 [TBL] [Abstract][Full Text] [Related]
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39. Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up. Arias-Llorente RP; Rodriguez-Dehli C; López-Martínez A; Riaño-Galán I Fetal Pediatr Pathol; 2015; 34(6):375-82. PubMed ID: 26470739 [TBL] [Abstract][Full Text] [Related]
40. [Goltz-Gorlin syndrome without focal dermal hypoplasia]. van der Kerkhof PC; Perret CM; Happle R Hautarzt; 1988 Nov; 39(11):743-5. PubMed ID: 3243717 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]