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A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
Mutlu, Mehmet Burak; Cetinkaya, Arda; Koc, Nermin; Ceylaner, Gulay; Erguner, Bekir; Aydin, Hatip; Karaman, Selin; Demirci, Oya; Goksu, Kamber; Karaman, Ali.
Afiliação
  • Mutlu MB; Medical Genetics Unit, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
  • Cetinkaya A; Medical Genetics Unit, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
  • Koc N; Pathology Unit, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
  • Ceylaner G; Intergen Genetic Center, Ankara, Turkey.
  • Erguner B; Advanced Genomics and Bioinformatics Research Center (IGBAM), BILGEM, TUBITAK, Kocaeli, Turkey.
  • Aydin H; Department of Medical Genetics, Faculty of Medicine, Namik Kemal University, Tekirdag, Turkey.
  • Karaman S; Department of Family Medicine, Dr. Lutfi Kirdar Kartal Training and Research Hospital, Istanbul, Turkey.
  • Demirci O; Department of Obstetrics and Gynecology, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
  • Goksu K; Department of Radiology, Fatih Sultan Mehmet Training and Research Hospital, Istanbul, Turkey.
  • Karaman A; Department of Medical Genetics, Istanbul Zeynep Kamil Women and Children Training and Research Hospital, Turkey. Electronic address: alikaramandr@hotmail.com.
Eur J Med Genet ; 59(11): 604-606, 2016 Nov.
Article em En | MEDLINE | ID: mdl-27638328

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ossos Pélvicos / Útero / Ectromelia / Proteínas Wnt / Extremidades / Amenorreia Tipo de estudo: Etiology_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Turquia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ossos Pélvicos / Útero / Ectromelia / Proteínas Wnt / Extremidades / Amenorreia Tipo de estudo: Etiology_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Turquia