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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Bhoj, Elizabeth J; Haye, Damien; Toutain, Annick; Bonneau, Dominique; Nielsen, Irene Kibæk; Lund, Ida Bay; Bogaard, Pauline; Leenskjold, Stine; Karaer, Kadri; Wild, Katherine T; Grand, Katheryn L; Astiazaran, Mirena C; Gonzalez-Nieto, Luis A; Carvalho, Ana; Lehalle, Daphné; Amudhavalli, Shivarajan M; Repnikova, Elena; Saunders, Carol; Thiffault, Isabelle; Saadi, Irfan; Li, Dong; Hakonarson, Hakon; Vial, Yoann; Zackai, Elaine; Callier, Patrick; Drunat, Séverine; Verloes, Alain.
Afiliação
  • Bhoj EJ; Department of Genetics, Children's Hospital of Philadelphia, United States; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
  • Haye D; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.
  • Toutain A; Bretonneau University Hospital, Tours, France.
  • Bonneau D; Department of Biochemistry and Genetics, UMR CNRS 6015 INSERM 1083, University Hospital, Angers, France.
  • Nielsen IK; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
  • Lund IB; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
  • Bogaard P; Department of Pathology, Aalborg University Hospital, Aalborg, Denmark.
  • Leenskjold S; Department of Gynecology and Obstetrics, Aalborg University Hospital, Aalborg, Denmark.
  • Karaer K; Dr Ersin Arslan Research and Training Hospital, Department of Medical Genetics, Gaziantep, Turkey.
  • Wild KT; Department of Genetics, Children's Hospital of Philadelphia, United States.
  • Grand KL; Department of Genetics, Children's Hospital of Philadelphia, United States.
  • Astiazaran MC; Genetics Department, Research Unit-Genetics Department, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico.
  • Gonzalez-Nieto LA; Genetics Department, Research Unit-Genetics Department, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico.
  • Carvalho A; Clinical Genetics Department, Coimbra Paediatric Hospital, Coimbra, Portugal.
  • Lehalle D; Children University Hospital, Dijon, France.
  • Amudhavalli SM; Division of Clinical Genetics, Children's Mercy Hospital, University of Missouri Kansas City, School of Medicine, Kansas City, MO, United States.
  • Repnikova E; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri Kansas City, School of Medicine, Kansas City, MO, United States.
  • Saunders C; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri Kansas City, School of Medicine, Kansas City, MO, United States.
  • Thiffault I; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri Kansas City, School of Medicine, Kansas City, MO, United States.
  • Saadi I; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, United States.
  • Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
  • Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
  • Vial Y; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.
  • Zackai E; Department of Genetics, Children's Hospital of Philadelphia, United States.
  • Callier P; Clinical Genetics Department, Coimbra Paediatric Hospital, Coimbra, Portugal.
  • Drunat S; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.
  • Verloes A; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France. Electronic address: alain.verloes@aphp.fr.
Eur J Med Genet ; 62(12): 103588, 2019 Dec.
Article em En | MEDLINE | ID: mdl-30472488
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fosfoproteínas / Anormalidades Múltiplas / Deformidades Congênitas do Pé / Deformidades Congênitas da Mão / Anormalidades Craniofaciais / Deficiência Intelectual Ligada ao Cromossomo X / Esôfago / Transtornos do Crescimento / Hidrocefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fosfoproteínas / Anormalidades Múltiplas / Deformidades Congênitas do Pé / Deformidades Congênitas da Mão / Anormalidades Craniofaciais / Deficiência Intelectual Ligada ao Cromossomo X / Esôfago / Transtornos do Crescimento / Hidrocefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos