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Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Huang, Yan; Mao, Xiao; van Jaarsveld, Richard H; Shu, Li; Terhal, Paulien A; Jia, Zhengjun; Xi, Hui; Peng, Ying; Yan, Huiming; Yuan, Shan; Li, Qibin; Wang, Hua; Bellen, Hugo J.
Afiliación
  • Huang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Mao X; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
  • van Jaarsveld RH; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China.
  • Shu L; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, China.
  • Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht CX 3584, The Netherlands.
  • Jia Z; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China.
  • Xi H; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, China.
  • Peng Y; Department of Genetics, University Medical Center Utrecht, Utrecht CX 3584, The Netherlands.
  • Yan H; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China.
  • Yuan S; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, China.
  • Li Q; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China.
  • Wang H; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, China.
  • Bellen HJ; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China.
Hum Mol Genet ; 29(9): 1537-1546, 2020 06 03.
Article en En | MEDLINE | ID: mdl-32338762
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Predisposición Genética a la Enfermedad / Proteína CapZ / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Predisposición Genética a la Enfermedad / Proteína CapZ / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos