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Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi, Yosra; Loeuillet, Laurence; Petrilli, Giulia; Egloff, Charles; Nectoux, Juliette; Molac, Clémence; Roux, Nathalie; Pannier, Emmanuelle; Achaiaa, Amale; Arkoub, Zaina Ait; Chuon, Sophie; Coussement, Aurélie; Dupont, Jean Michel; Malan, Valérie; Spaggiari, Emmanuel; Razavi, Ferechte; Amiel, Jeanne; Bessières, Bettina; Grotto, Sarah; Attié-Bitach, Tania.
Affiliation
  • Lajmi Y; Department of Genomic Medicine of System and Organs Diseases, Cochin Hospital, APHP Center, University Paris Cité, Paris, France.
  • Loeuillet L; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Petrilli G; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Egloff C; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Nectoux J; Department of Genomic Medicine of System and Organs Diseases, Cochin Hospital, APHP Center, University Paris Cité, Paris, France.
  • Molac C; Clinical Genetics, Maternity Port-Royal, APHP Center, University Paris Cité, Paris, France.
  • Roux N; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Pannier E; Gynecology-Obstetrics Department, Port-Royal Hospital, APHP Center, University Paris Cité, Paris, France.
  • Achaiaa A; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Arkoub ZA; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Chuon S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Coussement A; Department of Genomic Medicine of System and Organs Diseases, Cochin Hospital, APHP Center, University Paris Cité, Paris, France.
  • Dupont JM; Department of Genomic Medicine of System and Organs Diseases, Cochin Hospital, APHP Center, University Paris Cité, Paris, France.
  • Malan V; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Spaggiari E; Gynecology-Obstetrics Department, Necker Hospital for Children Diseases, APHP Center, University Paris Cité, Paris, France.
  • Razavi F; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Amiel J; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Bessières B; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
  • Grotto S; Clinical Genetics, Maternity Port-Royal, APHP Center, University Paris Cité, Paris, France.
  • Attié-Bitach T; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.
Birth Defects Res ; 115(5): 563-571, 2023 03 15.
Article in En | MEDLINE | ID: mdl-36538874
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hydrops Fetalis / Lymphedema Type of study: Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: Birth Defects Res Year: 2023 Document type: Article Affiliation country: France Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hydrops Fetalis / Lymphedema Type of study: Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: Birth Defects Res Year: 2023 Document type: Article Affiliation country: France Country of publication: United States