Your browser doesn't support javascript.
loading
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Luo, Xi; Schoch, Kelly; Jangam, Sharayu V; Bhavana, Venkata Hemanjani; Graves, Hillary K; Kansagra, Sujay; Jasien, Joan M; Stong, Nicholas; Keren, Boris; Mignot, Cyril; Ravelli, Claudia; Bellen, Hugo J; Wangler, Michael F; Shashi, Vandana; Yamamoto, Shinya.
Affiliation
  • Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
  • Schoch K; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Jangam SV; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA.
  • Bhavana VH; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
  • Graves HK; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Kansagra S; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
  • Jasien JM; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Stong N; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
  • Keren B; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Mignot C; Division of Pediatric Neurology, Department of Pediatrics, Duke Health, Durham, NC 27710, USA.
  • Ravelli C; Division of Pediatric Neurology, Department of Pediatrics, Duke Health, Durham, NC 27710, USA.
  • Bellen HJ; Département de Génétique, Hospitalier Pitié-Salpêtrière, APHP, Paris 75013, France.
  • Wangler MF; Sorbonne Université, Paris 75006, France.
  • Shashi V; Sorbonne Université, Paris 75006, France.
  • Yamamoto S; APHP, Sorbonne Université, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière et Hôpital Trousseau, Paris 75013, France.
Hum Mol Genet ; 30(14): 1283-1292, 2021 06 26.
Article in En | MEDLINE | ID: mdl-33864376
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polycomb Repressive Complex 1 / Neurodevelopmental Disorders Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polycomb Repressive Complex 1 / Neurodevelopmental Disorders Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication: