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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Dawood, Moez; Akay, Gulsen; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M; Gezdirici, Alper; Najmabadi, Hossein; Kahrizi, Kimia; Punetha, Jaya; Grochowski, Christopher M; Du, Haowei; Jolly, Angad; Li, He; Coban-Akdemir, Zeynep; Sedlazeck, Fritz J; Hunter, Jill V; Jhangiani, Shalini N; Muzny, Donna; Pehlivan, Davut; Posey, Jennifer E; Carvalho, Claudia M B; Gibbs, Richard A; Lupski, James R.
Afiliação
  • Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Akay G; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Mitani T; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gezdirici A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Najmabadi H; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.
  • Kahrizi K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Punetha J; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
  • Grochowski CM; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Du H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Li H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Sedlazeck FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Hunter JV; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Posey JE; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.
Am J Med Genet A ; 191(3): 794-804, 2023 03.
Article em En | MEDLINE | ID: mdl-36598158
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans / Newborn País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans / Newborn País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos