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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.
Abdelrazek, Ibrahim M; Holling, Tess; Harms, Frederike L; Alawi, Malik; Omar, Tarek; Abdalla, Ebtesam; Kutsche, Kerstin.
Afiliación
  • Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Omar T; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
  • Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt. Electronic address: drebtesamabdalla@yahoo.com.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: kkutsche@uke.de.
Eur J Med Genet ; 66(3): 104715, 2023 Mar.
Article en En | MEDLINE | ID: mdl-36708876
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Anomalías Craneofaciales / Discapacidad Intelectual / Anomalías Musculoesqueléticas Tipo de estudio: Prognostic_studies Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Anomalías Craneofaciales / Discapacidad Intelectual / Anomalías Musculoesqueléticas Tipo de estudio: Prognostic_studies Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article