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Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
Apuril Velgara, Erika Solansh; Mariani, Milena; Torella, Annalaura; Musacchia, Francesco; Nigro, Vincenzo; Selicorni, Angelo.
  • Apuril Velgara ES; Department of Pediatric, Mariani Foundation Center for Fragile Child ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy.
  • Mariani M; Department of Pediatric, Mariani Foundation Center for Fragile Child ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy.
  • Torella A; Department of Precision Medicine, University "Luigi Vanvitelli", Naples, Italy.
  • Musacchia F; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
  • Selicorni A; Department of Precision Medicine, University "Luigi Vanvitelli", Naples, Italy.
Am J Med Genet A ; 188(6): 1661-1666, 2022 06.
Article en En | MEDLINE | ID: mdl-35243770
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Hipertricosis Tipo de estudio: Diagnostic_studies Límite: Humans / Infant Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Hipertricosis Tipo de estudio: Diagnostic_studies Límite: Humans / Infant Idioma: En Año: 2022 Tipo del documento: Article