Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.

Lugli, Licia; Cavalleri, Francesca; Bertucci, Emma; Fischer-Zirnsak, Björn; Cinelli, Giulia; Trevisani, Viola; Rossi, Cecilia; Riva, Marika; Iughetti, Lorenzo; Berardi, Alberto

Lugli, Licia; Cavalleri, Francesca; Bertucci, Emma; Fischer-Zirnsak, Björn; Cinelli, Giulia; Trevisani, Viola; Rossi, Cecilia; Riva, Marika; Iughetti, Lorenzo; Berardi, Alberto.

Affiliation

Lugli L; Neonatology Unit, Mother-Child Department, University Hospital of Modena, Italy. Electronic address: lugli.licia@aou.mo.it.
Cavalleri F; Neuroradiology Unit, University Hospital of Modena, Italy.
Bertucci E; Obstetric-Gynecology Unit, Mother-Child Department, University Hospital of Modena, Italy.
Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité- Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt Universität zu Berlin, And Berlin Institute of Health, Berlin, Germany.
Cinelli G; Postgraduate School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Italy.
Trevisani V; Postgraduate School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Italy.
Rossi C; Neonatology Unit, Mother-Child Department, University Hospital of Modena, Italy.
Riva M; Pediatric Unit, Mother-Child Department, University Hospital of Modena, Italy.
Iughetti L; Postgraduate School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Italy; Pediatric Unit, Mother-Child Department, University Hospital of Modena, Italy.
Berardi A; Neonatology Unit, Mother-Child Department, University Hospital of Modena, Italy.

Eur J Med Genet ; 65(9): 104568, 2022 Sep.

Article de En | MEDLINE | ID: mdl-35842092

Sujet(s)
Mots clés

ALDH18A1; Autosomal recessive; Cutis laxa; P5CS

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Cutis laxa Limites: Humans Langue: En Journal: Eur J Med Genet Sujet du journal: GENETICA MEDICA Année: 2022 Type de document: Article

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