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Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Saad, Ahmed K; Marafi, Dana; Mitani, Tadahiro; Jolly, Angad; Du, Haowei; Elbendary, Hasnaa M; Jhangiani, Shalini N; Akdemir, Zeynep C; Gibbs, Richard A; Hunter, Jill V; Carvalho, Claudia M B C; Pehlivan, Davut; Posey, Jennifer E; Zaki, Maha S; Lupski, James R.
Afiliação
  • Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Marafi D; Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Jolly A; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, 13110 Safat, Kuwait.
  • Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Elbendary HM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Jhangiani SN; MD/PhD Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Posey JE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Zaki MS; Department of Radiology, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Lupski JR; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, 77030, USA.
Brain ; 143(10): e83, 2020 10 01.
Article em En | MEDLINE | ID: mdl-33011761
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Deficiência Intelectual Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Deficiência Intelectual Idioma: En Ano de publicação: 2020 Tipo de documento: Article