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Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Beheshtian, Maryam; Akhtarkhavari, Tara; Mehvari, Sepideh; Mohseni, Marzieh; Fattahi, Zohreh; Abedini, Seyedeh Sedigheh; Arzhangi, Sanaz; Fadaee, Mahsa; Jamali, Payman; Najafipour, Reza; Kalscheuer, Vera M; Hu, Hao; Ropers, Hans-Hilger; Najmabadi, Hossein; Kahrizi, Kimia.
Afiliação
  • Beheshtian M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Akhtarkhavari T; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Mehvari S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Mohseni M; 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.
  • Abedini SS; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Arzhangi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Fadaee M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Jamali P; Genetic Counseling Center, Shahroud Welfare Organization, Semnan, Iran.
  • Najafipour R; Cellular and Molecular Research Centre, Genetic Department, Qazvin University of Medical Sciences, Qazvin, Iran.
  • Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Hu H; Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Ropers HH; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Najmabadi H; Institute for Human Genetics, University Medicine, Mainz, Germany.
  • Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Clin Genet ; 99(1): 187-192, 2021 01.
Article em En | MEDLINE | ID: mdl-32895917
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Quadriplegia / Complexo 4 de Proteínas Adaptadoras / Estudos de Associação Genética / Deficiência Intelectual Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Irã
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Quadriplegia / Complexo 4 de Proteínas Adaptadoras / Estudos de Associação Genética / Deficiência Intelectual Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Irã