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Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Kariminejad, Ariana; Szenker-Ravi, Emmanuelle; Lekszas, Caroline; Tajsharghi, Homa; Moslemi, Ali-Reza; Naert, Thomas; Tran, Hong Thi; Ahangari, Fatemeh; Rajaei, Minoo; Nasseri, Mojila; Haaf, Thomas; Azad, Afrooz; Superti-Furga, Andrea; Maroofian, Reza; Ghaderi-Sohi, Siavash; Najmabadi, Hossein; Abbaszadegan, Mohammad Reza; Vleminckx, Kris; Nikuei, Pooneh; Reversade, Bruno.
Afiliación
  • Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14665, Iran.
  • Szenker-Ravi E; Institute of Medical Biology, Agency for Science, Technology, and Research, 8A Biomedical Grove, Singapore 138648, Republic of Singapore.
  • Lekszas C; Institute of Human Genetics, Julius-Maximilians-Universität, 97074 Würzburg, Germany.
  • Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skövde, 54128 Skövde, Sweden.
  • Moslemi AR; Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg University, 41390 Gothenburg, Sweden.
  • Naert T; Department of Biomedical Molecular Biology, Ghent University, B-9052 Ghent, Belgium.
  • Tran HT; Department of Biomedical Molecular Biology, Ghent University, B-9052 Ghent, Belgium.
  • Ahangari F; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14665, Iran.
  • Rajaei M; Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas 7919915519, Iran.
  • Nasseri M; Pardis Clinical and Genetics Laboratory, Mashhad 9177948974, Iran.
  • Haaf T; Institute of Human Genetics, Julius-Maximilians-Universität, 97074 Würzburg, Germany.
  • Azad A; Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas 7919915519, Iran.
  • Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV), University of Lausanne, 1011 Lausanne, Switzerland.
  • Maroofian R; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Ghaderi-Sohi S; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14665, Iran.
  • Najmabadi H; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14665, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran.
  • Abbaszadegan MR; Pardis Clinical and Genetics Laboratory, Mashhad 9177948974, Iran; Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad 15731, Iran.
  • Vleminckx K; Department of Biomedical Molecular Biology, Ghent University, B-9052 Ghent, Belgium.
  • Nikuei P; Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas 7919915519, Iran. Electronic address: poonehnikuei@gmail.com.
  • Reversade B; Institute of Medical Biology, Agency for Science, Technology, and Research, 8A Biomedical Grove, Singapore 138648, Republic of Singapore; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of M
Am J Hum Genet ; 105(6): 1294-1301, 2019 12 05.
Article en En | MEDLINE | ID: mdl-31761294

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rótula / Pelvis / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Proteínas de Dominio T Box / Ectromelia / Mutación con Pérdida de Función / Cadera / Homocigoto / Isquion Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Irán

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rótula / Pelvis / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Proteínas de Dominio T Box / Ectromelia / Mutación con Pérdida de Función / Cadera / Homocigoto / Isquion Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Irán