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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu, Bede N; Williams, Lydia S; Brewer, Niambi; Surrey, Lea F; Srinivasan, Abhay S; Li, Dong; Britt, Allison; Treat, James; Crowley, T Blaine; O'Connor, Nora; Ganguly, Arupa; Low, David; Queenan, Maria; Drivas, Theodore G; Zackai, Elaine H; Adams, Denise M; Hakonarson, Hakon; Snyder, Kristen M; Sheppard, Sarah E.
Affiliation
  • Nriagu BN; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Williams LS; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Brewer N; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Surrey LF; Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Srinivasan AS; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Li D; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Britt A; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Treat J; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Crowley TB; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • O'Connor N; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Ganguly A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Low D; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Queenan M; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Drivas TG; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zackai EH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Adams DM; Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Hakonarson H; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Snyder KM; Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Sheppard SE; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 194(1): 64-69, 2024 Jan.
Article in En | MEDLINE | ID: mdl-37705207
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Turner Syndrome / Cardiovascular Abnormalities / Lymphatic Abnormalities / Vascular Malformations Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Type: Article Affiliation country: United States
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Turner Syndrome / Cardiovascular Abnormalities / Lymphatic Abnormalities / Vascular Malformations Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Type: Article Affiliation country: United States