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SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
Migliore, Chiara; Vendramin, Anna; McKee, Shane; Prontera, Paolo; Faravelli, Francesca; Sachdev, Rani; Dias, Patricia; Mascaro, Martina; Licastro, Danilo; Meroni, Germana.
Affiliation
  • Migliore C; Department of Life Sciences, University of Trieste, 34127 Trieste, Italy.
  • Vendramin A; Genomic and Bioinformatic Lab., Cluster in Biomedicine, S.c.r.l., 34149 Trieste, Italy.
  • McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.
  • Prontera P; Medical Genetics Unit, University and Hospital of Perugia, 06129 Perugia, Italy.
  • Faravelli F; The North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Sachdev R; St George and Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
  • Dias P; Serviço de Genética Médica, Hospital de Santa Maria, Centro Universitário Hospitalar Lisboa Norte, 1649-028 Lisbon, Portugal.
  • Mascaro M; Department of Life Sciences, University of Trieste, 34127 Trieste, Italy.
  • Licastro D; Area Science Park, 34149 Trieste, Italy.
  • Meroni G; Department of Life Sciences, University of Trieste, 34127 Trieste, Italy.
Genes (Basel) ; 13(2)2022 01 28.
Article in En | MEDLINE | ID: mdl-35205294
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Full text: 1 Database: MEDLINE Main subject: Hypertelorism / Hypospadias Limits: Female / Humans / Male Language: En Year: 2022 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Hypertelorism / Hypospadias Limits: Female / Humans / Male Language: En Year: 2022 Type: Article