Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation-Reference-Cited by-同舟云学术

Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation

Published:2015-10-05 Issue:5 Volume:173 Page:1316-1318
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Leclerc-Mercier S.¹²,Dufernez F.³,Fraitag S.²,Coulombe J.¹,Dompmartin A.⁴,Barreau M.⁴,Bozon D.⁵,Lamazière A.⁶⁷,Bonnefont J.-P.⁸,Khalifa E.⁸,Bodemer C.¹⁹,Hadj-Rabia S.¹⁹

Affiliation:

1. Department of Dermatology; Centre National de Référence des Maladies Génétiques à Expression Cutanée (MAGEC); Hôpital Universitaire Necker-Enfants Malades, APHP; Université Paris Descartes - Sorbonne Paris Cité; Institut Imagine; Paris France

2. Department of Pathology; Hôpital Universitaire Necker-Enfants Malades, APHP; Paris France

3. Department of Genetics; Laboratoire Commun de Biologie et Génétique Moléculaires (LCBGM) and Department of Mass Spectrometry; ERL INSERM U1057; UMR 7203; Hôpital Saint-Antoine, APHP; Paris France

4. Department of Dermatology; CHU Caen; Caen France

5. Centre de Biologie et de Pathologie Est; CHU Lyon; Lyon France

6. Department of Metabolomics and Peptidomics (PM ); Hôpital Saint-Antoine, APHP; Paris France

7. Laboratory of Mass Spectrometry; UPMC; Paris VI; ERL Inserm U1157; UMR 7203 LBM; Hôpital Saint-Antoine, APHP; Paris France

8. Department of Genetics; Hôpital Universitaire Necker-Enfants Malades, APHP; Paris France

9. Unité INSERM U1163; Université Paris Descartes - Sorbonne Paris Cité; Institut Imagine; Paris France

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.13948/fullpdf

Reference12 articles.

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2. 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;Cañueto;Br J Dermatol,2012

3. Mutations in the gene encoding 3β-hydroxysteroid-Δ8, Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome;Braverman;Nat Genet,1999

4. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome;Has;J Invest Dermatol,2002

5. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010

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