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An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.
Alesi, Viola; Capolino, Rossella; Genovesea, Silvia; Capriati, Teresa; Loddo, Sara; Calvieri, Giusy; Calacci, Chiara; Diociaiuti, Andrea; Diamanti, Antonella; Novelli, Antonio; Dallapiccola, Bruno.
Afiliación
  • Alesi V; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Capolino R; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Genovesea S; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Capriati T; Artificial Nutrition Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Loddo S; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Calvieri G; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Calacci C; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Diociaiuti A; Dermatology Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Diamanti A; Artificial Nutrition Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Novelli A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Dallapiccola B; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Am J Med Genet A ; 176(12): 2781-2786, 2018 12.
Article en En | MEDLINE | ID: mdl-30289615
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Endorribonucleasas / Homocigoto / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Endorribonucleasas / Homocigoto / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Italia