Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.


Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
14 12 2022
Historique:
received: 20 11 2022
revised: 06 12 2022
accepted: 06 12 2022
entrez: 23 12 2022
pubmed: 24 12 2022
medline: 27 12 2022
Statut: epublish

Résumé

Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to

Identifiants

pubmed: 36553627
pii: genes13122360
doi: 10.3390/genes13122360
pmc: PMC9777635
pii:
doi:

Substances chimiques

Water 059QF0KO0R

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Références

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Auteurs

Laura Fertitta (L)

Department of Dermatology, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 149 rue de Sèvres-75743 PARIS, CEDEX 15, 75679 Paris, France.
Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.

Fabienne Charbit-Henrion (F)

INSERM U1163, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France.
Genomic Medecine Unit, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.

Stéphanie Leclerc-Mercier (S)

Department of Pathology, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.

Thao Nguyen-Khoa (T)

Laboratory of Biochemistry, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.
Reference Center for Rare Diseases: Cystic Fibrosis and Other Epithelial Respiratory Protein Misfolding Diseases, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.
INSERM U1151, Institut Necker-Enfants Malades, Université Paris Cité, 75015 Paris, France.

Robert Baran (R)

Nail Disease Center, 06400 Cannes, France.

Caroline Alby (C)

Genomic Medecine Unit, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.

Julie Steffann (J)

INSERM U1163, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France.
Genomic Medecine Unit, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.

Isabelle Sermet-Gaudelus (I)

Reference Center for Rare Diseases: Cystic Fibrosis and Other Epithelial Respiratory Protein Misfolding Diseases, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.
INSERM U1151, Institut Necker-Enfants Malades, Université Paris Cité, 75015 Paris, France.

Smail Hadj-Rabia (S)

Department of Dermatology, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 149 rue de Sèvres-75743 PARIS, CEDEX 15, 75679 Paris, France.
Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, 75015 Paris, France.
INSERM U1163, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France.

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Classifications MeSH