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Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
Bolli, Amber; Nriagu, Bede; Britt, Allison D; Toole, Anjali D; Treat, James; Srinivasan, Abhay; Sheppard, Sarah E.
Afiliación
  • Bolli A; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Nriagu B; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Britt AD; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Toole AD; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Treat J; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Srinivasan A; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Sheppard SE; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 191(5): 1442-1446, 2023 05.
Article en En | MEDLINE | ID: mdl-36695285
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Telangiectasia / Malformaciones Vasculares / Livedo Reticularis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
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PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Telangiectasia / Malformaciones Vasculares / Livedo Reticularis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos