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Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
Trkova, Marie; Hynek, Martin; Dudakova, Lubica; Becvarova, Vera; Hlozanek, Martin; Raskova, Dagmar; Vincent, Andrea L; Liskova, Petra.
Afiliación
  • Trkova M; Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic.
  • Hynek M; Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic.
  • Dudakova L; Department of Gynecology and Obstetrics, Thomayer Hospital, Prague, Czech Republic.
  • Becvarova V; Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
  • Hlozanek M; Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic.
  • Raskova D; Department of Ophthalmology, Second Faculty of Medicine, Charles University in Prague and Motol Hospital in Prague, Czech Republic.
  • Vincent AL; Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic.
  • Liskova P; Faculty of Medical and Health Sciences, Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
Am J Med Genet A ; 170(7): 1843-8, 2016 07.
Article en En | MEDLINE | ID: mdl-27256633

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Catarata / Atrofia Óptica / Córnea / Proteínas de Unión al GTP rab3 / Cadena B de beta-Cristalina / Hipogonadismo / Discapacidad Intelectual / Microcefalia Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Catarata / Atrofia Óptica / Córnea / Proteínas de Unión al GTP rab3 / Cadena B de beta-Cristalina / Hipogonadismo / Discapacidad Intelectual / Microcefalia Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos