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Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue, Whitney L; Johnson, Peter; McDonald, Jamie; Blei, Francine; Berenstein, Alejandro; Sorscher, Michelle; Mayer, Jennifer; Scheuerle, Angela E; Lewis, Tracey; Grimmer, J Fredrik; Richter, Gresham T; Steeves, Marcie A; Lin, Angela E; Stevenson, David A; Bayrak-Toydemir, Pinar.
Afiliación
  • Wooderchak-Donahue WL; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Johnson P; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • McDonald J; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Blei F; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Berenstein A; HHT Center, Department of Radiology, University of Utah, Salt Lake City, UT, USA.
  • Sorscher M; Vascular Anomalies Program of Lenox Hill Hospital, Northwell Health, Hofstra School of Medicine, New York City, NY, USA.
  • Mayer J; Pediatric Endovascular Surgery Ichan School of Medicine, Mt. Sinai Health System, New York City, NY, USA.
  • Scheuerle AE; Pediatric Endovascular Surgery Ichan School of Medicine, Mt. Sinai Health System, New York City, NY, USA.
  • Lewis T; Department of Pediatric Hematology and Oncology, All Children's Hospital Johns Hopkins Medicine, St. Petersburg, FL, USA.
  • Grimmer JF; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Richter GT; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
  • Steeves MA; Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT, USA.
  • Lin AE; Department of Otolaryngology-Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
  • Stevenson DA; Medical Genetics, Mass General Hospital for Children, Boston, MA, USA.
  • Bayrak-Toydemir P; Medical Genetics, Mass General Hospital for Children, Boston, MA, USA.
Eur J Hum Genet ; 26(10): 1521-1536, 2018 10.
Article en En | MEDLINE | ID: mdl-29891884
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Malformaciones Arteriovenosas / Capilares / Mancha Vino de Oporto / Predisposición Genética a la Enfermedad / Proteína Activadora de GTPasa p120 / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Malformaciones Arteriovenosas / Capilares / Mancha Vino de Oporto / Predisposición Genética a la Enfermedad / Proteína Activadora de GTPasa p120 / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos