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Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
Lugli, Licia; Bariola, Maria Carolina; Ferri, Lorenzo; Lucaccioni, Laura; Bertucci, Emma; Cattini, Umberto; Torcetta, Francesco; Morrone, Amelia; Iughetti, Lorenzo; Berardi, Alberto.
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  • Lugli L; Neonatology Unit, Mother-Child Department, University Hospital of Modena, Modena, Italy.
  • Bariola MC; Post-graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
  • Ferri L; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, Florence, Italy.
  • Lucaccioni L; Pediatric Unit, Mother-Child Department, University Hospital of Modena, Modena, Italy.
  • Bertucci E; Obstetric-Gynecology Unit, Mother-Child Department, University Hospital of Modena, Modena, Italy.
  • Cattini U; Post-graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
  • Torcetta F; Neonatology Unit, Mother-Child Department, University Hospital of Modena, Modena, Italy.
  • Morrone A; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, Florence, Italy.
  • Iughetti L; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.
  • Berardi A; Post-graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Am J Med Genet A ; 185(4): 1187-1194, 2021 04.
Article en En | MEDLINE | ID: mdl-33394555
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Anomalías Múltiples / Atrofia Muscular / Anomalías Craneofaciales / Proteínas Adaptadoras del Transporte Vesicular / Desarrollo Sexual Tipo de estudio: Risk_factors_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Anomalías Múltiples / Atrofia Muscular / Anomalías Craneofaciales / Proteínas Adaptadoras del Transporte Vesicular / Desarrollo Sexual Tipo de estudio: Risk_factors_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Italia