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Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Kahrizi, Kimia; Huber, Mareike; Galetzka, Danuta; Dewi, Sri; Schröder, Julia; Weis, Eva; Kariminejad, Ariana; Fattahi, Zoherh; Ropers, Hans-Hilger; Schweiger, Susann; Najmabadi, Hossein; Winter, Jennifer.
Affiliation
  • Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Huber M; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Galetzka D; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Dewi S; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Schröder J; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Weis E; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Kariminejad A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Ropers HH; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Schweiger S; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Najmabadi H; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Winter J; Focus Program of Translational Neurosciences of the Johannes Gutenberg University Mainz, Mainz, Germany.
Am J Med Genet A ; 179(7): 1214-1225, 2019 07.
Article in En | MEDLINE | ID: mdl-31069901
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Full text: 1 Database: MEDLINE Main subject: Carrier Proteins / Retinitis Pigmentosa / Homozygote / Intellectual Disability / Mutation Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Iran
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Carrier Proteins / Retinitis Pigmentosa / Homozygote / Intellectual Disability / Mutation Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Iran