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9. Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis. Takeda M; Nomura T; Sugiyama T; Miyauchi T; Suzuki S; Fujita Y; Shimizu H J Dermatol; 2018 Dec; 45(12):1463-1467. PubMed ID: 30302839 [TBL] [Abstract][Full Text] [Related]
11. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. Sugiura K; Akiyama M J Dermatol Sci; 2015 Jul; 79(1):4-9. PubMed ID: 25982146 [TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations. Swink SM; Hurley M; Haynes D; Larijani M Pediatr Dermatol; 2024; 41(3):546-548. PubMed ID: 38196085 [TBL] [Abstract][Full Text] [Related]
13. A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype. Akiyama M; Takizawa Y; Suzuki Y; Shimizu H Br J Dermatol; 2003 Jan; 148(1):149-53. PubMed ID: 12534611 [TBL] [Abstract][Full Text] [Related]
14. Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Lima Cunha D; Alakloby OM; Gruber R; Kakar N; Ahmad J; Alawbathani S; Plank R; Eckl K; Krabichler B; Altmüller J; Nürnberg P; Zschocke J; Borck G; Schmuth M; Alabdulkareem AS; Abdulaziz Alnutaifi K; Hennies HC Mol Genet Genomic Med; 2019 Mar; 7(3):e539. PubMed ID: 30600594 [TBL] [Abstract][Full Text] [Related]
15. A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion. Park SH; Shin JY; Park YM; Youn YA; Kim M Can J Ophthalmol; 2013 Dec; 48(6):e144-5. PubMed ID: 24314425 [No Abstract] [Full Text] [Related]
16. Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Hotz A; Bourrat E; Küsel J; Oji V; Alter S; Hake L; Korbi M; Ott H; Hausser I; Zimmer AD; Fischer J Hum Mutat; 2018 Oct; 39(10):1305-1313. PubMed ID: 30011118 [TBL] [Abstract][Full Text] [Related]
17. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. Alavi A; Shahshahani MM; Klotzle B; Fan JB; Ronaghi M; Elahi E J Dermatol; 2012 Apr; 39(4):375-81. PubMed ID: 22098531 [TBL] [Abstract][Full Text] [Related]
18. A Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature. Angmo D; Patil B; Agarwal R; Mohanty K; Singh A J Glaucoma; 2016 Mar; 25(3):e280-3. PubMed ID: 26439315 [TBL] [Abstract][Full Text] [Related]
19. [Congenital ectropion in ichthyosis congenita mitis and gravis]. Menke TB; Moschner S; Joachimmeyer E; Ahrens P; Geerling G Ophthalmologe; 2006 May; 103(5):410-5. PubMed ID: 16328488 [TBL] [Abstract][Full Text] [Related]
20. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. Cserhalmi-Friedman PB; Milstone LM; Christiano AM Br J Dermatol; 2001 Apr; 144(4):726-30. PubMed ID: 11298529 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]