Literature DB >> 34490468

Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.

Akito Hasegawa1, Satoru Shinkuma, Ryota Hayashi, Yutaka Shimomura, Riichiro Abe.   

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Year:  2021        PMID： 34490468      PMCID： PMC9425570          DOI： 10.2340/00015555-3916

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  10 in total

1.  Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.

Authors:  T Takeichi; A Honda; Y Okuno; D Kojima; M Kono; Y Nakamura; M Tohyama; T Tanaka; Y Aoyama; M Akiyama
Journal:  Br J Dermatol       Date:  2018-08-06       Impact factor: 9.302

2.  Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

Authors:  N Braverman; P Lin; F F Moebius; C Obie; A Moser; H Glossmann; W R Wilcox; D L Rimoin; M Smith; L Kratz; R I Kelley; D Valle
Journal:  Nat Genet       Date:  1999-07       Impact factor: 38.330

3.  Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.

Authors:  Cristina Has; Udo Seedorf; Frank Kannenberg; Leena Bruckner-Tuderman; Elzo Folkers; Regina Fölster-Holst; Ivo Baric; Heiko Traupe
Journal:  J Invest Dermatol       Date:  2002-05       Impact factor: 8.551

Review 4.  Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Authors:  J Cañueto; M Girós; S Ciria; G Pi-Castán; M Artigas; J García-Dorado; V García-Patos; A Virós; T Vendrell; A Torrelo; A Hernández-Martín; E Martín-Hernández; M T Garcia-Silva; M Fernández-Burriel; J Rosell; M Tejedor; F Martínez; J Valero; J L García; E M Sánchez-Tapia; P Unamuno; R González-Sarmiento
Journal:  Br J Dermatol       Date:  2012-03-02       Impact factor: 9.302

5.  Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.

Authors:  N V Whittock; L Izatt; S L Simpson-Dent; K Becker; S H Wakelin
Journal:  Prenat Diagn       Date:  2003-09       Impact factor: 3.050

6.  X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.

Authors:  R Happle
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

7.  Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Authors:  Mathilde Lefebvre; Fabienne Dufernez; Ange-Line Bruel; Marie Gonzales; Bernard Aral; Judith Saint-Onge; Nadège Gigot; Julie Desir; Caroline Daelemans; Frédérique Jossic; Sébastien Schmitt; Raphaele Mangione; Fanny Pelluard; Catherine Vincent-Delorme; Jean-Marc Labaune; Nicole Bigi; Dominique D'Olne; Anne-Lise Delezoide; Annick Toutain; Sophie Blesson; Valérie Cormier-Daire; Julien Thevenon; Salima El Chehadeh; Alice Masurel-Paulet; Nicole Joyé; Claude Vibert-Guigue; Luc Rigonnot; Thierry Rousseau; Pierre Vabres; Philippe Hervé; Antonin Lamazière; Jean-Baptiste Rivière; Laurence Faivre; Nicole Laurent; Christel Thauvin-Robinet
Journal:  Prenat Diagn       Date:  2015-03-30       Impact factor: 3.050

8.  Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata.

Authors:  D Bruch; M Megahed; F Majewski; T Ruzicka
Journal:  J Am Acad Dermatol       Date:  1995-08       Impact factor: 11.527

9.  X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.

Authors:  David J Aughton; Richard I Kelley; Aida Metzenberg; Vincent Pureza; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2003-01-30       Impact factor: 2.802

10.  Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

Authors:  Gail E Herman; Richard I Kelley; V Pureza; D Smith; Kevin Kopacz; James Pitt; Rebecca Sutphen; Leslie J Sheffield; Aida B Metzenberg
Journal:  Genet Med       Date:  2002 Nov-Dec       Impact factor: 8.822
  10 in total

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