Your browser doesn't support javascript.
loading
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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-30289615
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Endoribonucleases / Homozygote / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Italy
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Endoribonucleases / Homozygote / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Italy