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Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
Pande, Shruti; Mascarenhas, Selinda; Venkatraman, Aishwarya; Bhat, Vivekananda; Narayanan, Dhanya Lakshmi; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju.
Afiliación
  • Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Venkatraman A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR hospitals, Hyderabad, India.
  • Bielas S; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Am J Med Genet A ; 191(8): 2175-2180, 2023 08.
Article en En | MEDLINE | ID: mdl-37337996
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Craneosinostosis / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: India
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Craneosinostosis / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: India