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Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.
Bijarnia-Mahay, Sunita; Somashekar, Puneeth H; Kaur, Parneet; Kulshrestha, Samarth; Ramprasad, Vedam L; Murugan, Sakthivel; Sud, Seema; Shukla, Anju.
Afiliación
  • Bijarnia-Mahay S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Bijarnia@gmail.com.
  • Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Kulshrestha S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Ramprasad VL; Medgenome Laboratories Ltd, Bengaluru, Karnataka, India.
  • Murugan S; Medgenome Laboratories Ltd, Bengaluru, Karnataka, India.
  • Sud S; Department of MRI, Sir Ganga Ram Hospital, New Delhi, India.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.
J Hum Genet ; 67(3): 133-136, 2022 Mar.
Article en En | MEDLINE | ID: mdl-34621002
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Artrogriposis / Trastornos del Neurodesarrollo / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant / Pregnancy Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: India
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Artrogriposis / Trastornos del Neurodesarrollo / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant / Pregnancy Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: India