Your browser doesn't support javascript.
loading
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
Zaki, Maha S; Accogli, Andrea; Mirzaa, Ghayda; Rahman, Fatima; Mohammed, Hiba; Porras-Hurtado, Gloria Liliana; Efthymiou, Stephanie; Maqbool, Shazia; Shukla, Anju; Vincent, John B; Hussain, Abrar; Mir, Asif; Beetz, Christian; Leubauer, Anika; Houlden, Henry; Gleeson, Joseph G; Maroofian, Reza.
Afiliación
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Accogli A; The Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.
  • Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Rahman F; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
  • Mohammed H; American centre for Psychiatry and Neurology', Abu Dhabi, United Arab Emirates.
  • Porras-Hurtado GL; Department of Medical Genetics, INCERHC International center research health Comfamiliar - Salud Comfamiliar, Comfamiiar Risaralda, Pereira, Colombia.
  • Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, London, UK.
  • Maqbool S; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health, Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.
  • Hussain A; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
  • Mir A; Human Molecular Genetics Lab, Department of Biological Sciences, FBAS, International Islamic University, Islamabad, Pakistan.
  • Beetz C; Human Molecular Genetics Lab, Department of Biological Sciences, FBAS, International Islamic University, Islamabad, Pakistan.
  • Leubauer A; CENTOGENE AG, Rostock, Germany.
  • Houlden H; CENTOGENE AG, Rostock, Germany.
  • Gleeson JG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, London, UK.
  • Maroofian R; Department of Neurosciences, University of California, San Diego, CA, USA.
Eur J Hum Genet ; 29(8): 1226-1234, 2021 08.
Article en En | MEDLINE | ID: mdl-34163010
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteínas Adaptadoras de Señalización del Receptor del Dominio de Muerte / Lisencefalia / Discapacidad Intelectual Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Egipto
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteínas Adaptadoras de Señalización del Receptor del Dominio de Muerte / Lisencefalia / Discapacidad Intelectual Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Egipto