Homozygous nonsense mutation of <i>WNT10B</i> gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.

Elalaoui, Siham Chafai; Fejjal, Nawfal; Li, Yun; Thiele, Holger; Altmüller, Janine; Guaoua, Soukaina; Nürnberg, Peter; Wollnik, Bernd; Sefiani, Abdelaziz; Ratbi, Ilham

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.

Elalaoui, Siham Chafai; Fejjal, Nawfal; Li, Yun; Thiele, Holger; Altmüller, Janine; Guaoua, Soukaina; Nürnberg, Peter; Wollnik, Bernd; Sefiani, Abdelaziz; Ratbi, Ilham.

Afiliação

Elalaoui SC; Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Mohammed V University in Rabat, Rabat, Maroc.
Fejjal N; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc.
Li Y; Service de Chirurgie Plastique Pédiatrique, Hôpital des Enfants, Centre Hospitalier Universitaire Ibn Sina, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.
Thiele H; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Altmüller J; Institute of Human Genetics, University Hospital Cologne, University of Cologne, Cologne, Germany.
Guaoua S; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Wollnik B; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Sefiani A; Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Mohammed V University in Rabat, Rabat, Maroc.
Ratbi I; Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Pan Afr Med J ; 39: 21, 2021.

Article em En | MEDLINE | ID: mdl-34394812

Assuntos

Deformidades Congênitas dos Membros/diagnóstico; Proteínas Proto-Oncogênicas/genética; Proteínas Wnt/genética; Criança; Códon sem Sentido; Exoma/genética; Feminino; Homozigoto; Humanos; Deformidades Congênitas dos Membros/genética; Deformidades Congênitas dos Membros/fisiopatologia; Marrocos

Palavras-chave

Homozygous mutation; WTN10B gene; case report; split-hand foot malformation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas / Deformidades Congênitas dos Membros / Proteínas Wnt Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans País/Região como assunto: Africa Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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