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Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Meng, Linyan; Donti, Taraka; Xia, Fan; Niu, Zhiyv; Al Shamsi, Aisha; Hertecant, Jozef; Al-Jasmi, Fatma; Gibson, James B; Nagakura, Honey; Zhang, Jing; He, Weimin; Eng, Christine; Yang, Yaping; Elsea, Sarah H.
Afiliação
  • Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Donti T; Baylor Genetics, Houston, Texas.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Niu Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Al Shamsi A; Baylor Genetics, Houston, Texas.
  • Hertecant J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Al-Jasmi F; Tawam Hospital, Al Ain, United Arab Emirates.
  • Gibson JB; Tawam Hospital, Al Ain, United Arab Emirates.
  • Nagakura H; Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Zhang J; Tawam Hospital, Al Ain, United Arab Emirates.
  • He W; Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Eng C; Specially for Children, Austin, Texas.
  • Yang Y; Specially for Children, Austin, Texas.
  • Elsea SH; Baylor Genetics, Houston, Texas.
Am J Med Genet A ; 173(2): 460-470, 2017 Feb.
Article em En | MEDLINE | ID: mdl-27860360
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pirrolina Carboxilato Redutases / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Homozigoto / Microcefalia / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pirrolina Carboxilato Redutases / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Homozigoto / Microcefalia / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article