title: Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
authors.affiliation: 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.|Department of Pathology, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Leclerc-Mercier
authors.affiliation: 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.
authors.forename: F
authors.initials: F
authors.lastname: Dufernez
authors.affiliation: Department of Pathology, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Fraitag
authors.affiliation: 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.
authors.forename: J
authors.initials: J
authors.lastname: Coulombe
authors.affiliation: Department of Dermatology, CHU Caen, Caen, France.
authors.forename: A
authors.initials: A
authors.lastname: Dompmartin
authors.affiliation: Department of Dermatology, CHU Caen, Caen, France.
authors.forename: M
authors.initials: M
authors.lastname: Barreau
authors.affiliation: Centre de Biologie et de Pathologie Est, CHU Lyon, Lyon, France.
authors.forename: D
authors.initials: D
authors.lastname: Bozon
authors.affiliation: Department of Metabolomics and Peptidomics (PM2), Hôpital Saint-Antoine, APHP, Paris, France.|Laboratory of Mass Spectrometry, UPMC, Paris VI, ERL Inserm U1157, UMR 7203 LBM, Hôpital Saint-Antoine, APHP, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Lamazière
authors.affiliation: Department of Genetics, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France.
authors.forename: J-P
authors.initials: JP
authors.lastname: Bonnefont
authors.affiliation: Department of Genetics, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Khalifa
authors.affiliation: 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.|Unité INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Bodemer
authors.affiliation: 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.|Unité INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Hadj-Rabia
mesh_terms: D002114:Calcinosis / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000235:genetics / Q000473:pathology*; D007644:Darier Disease / Q000235:genetics / Q000473:pathology*; D005091:Exons / Q000235:genetics; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics; D011446:Prospective Studies; D012189:Retrospective Studies; D013251:Steroid Isomerases / Q000235:genetics; D055815:Young Adult
chemical_list: D013251:Steroid Isomerases; C090445:EBP protein, human