Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Beyens, Aude; Pottie, Lore; Sips, Patrick; Callewaert, Bert

Beyens, Aude; Pottie, Lore; Sips, Patrick; Callewaert, Bert.

Afiliação

Beyens A; Center for Medical Genetics Ghent, Department of Dermatology, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
Pottie L; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Sips P; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

Adv Exp Med Biol ; 1348: 273-309, 2021.

Article em En | MEDLINE | ID: mdl-34807425

Assuntos

Cútis Laxa; Animais; Cútis Laxa/genética; Tecido Elástico; Homeostase; Humanos; Redes e Vias Metabólicas; Síndrome

Palavras-chave

ALDH18A1; ARCL type 1 (ARCL1); ARCL type 2 (ARCL2); ARCL type 3 (ARCL3); ATP6V0A2; ATP6V1A; ATP6V1E1; Cutis Laxa; De Barsy syndrome (DBS); Debré-type; ELN; Elastic Fiber; Extracellular matrix; FBLN4; FBLN5; Glycosylation; Krebs cycle; LTBP4; PYCR1; Proline synthesis; SLC2A10; Urban-Rifkin-Davis syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cútis Laxa Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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