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Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Saugier-Veber, Pascale; Marguet, Florent; Vezain, Myriam; Bucourt, Martine; Letard, Pascaline; Delahaye, Andrée; Pipiras, Eva; Frébourg, Thierry; Gonzalez, Bruno; Laquerrière, Annie.
Affiliation
  • Saugier-Veber P; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Marguet F; Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Pathology, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Vezain M; Normandie Univ, UNIROUEN, Inserm U1245, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Bucourt M; Paris University Hospital, Jean Verdier Hospital, Department of Pathology, F93141, Bondy, France.
  • Letard P; Paris University Hospital, Jean Verdier Hospital, Department of Genetics, F93141, Bondy, France.
  • Delahaye A; Paris University Hospital, Jean Verdier Hospital, Department of Genetics, F93141, Bondy, France.
  • Pipiras E; Paris University Hospital, Jean Verdier Hospital, Department of Genetics, F93141, Bondy, France.
  • Frébourg T; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Gonzalez B; Normandie Univ, UNIROUEN, Inserm U1245, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Laquerrière A; Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Pathology, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address: annie.laquerriere@chu-rouen.fr.
Eur J Med Genet ; 63(4): 103814, 2020 Apr.
Article in En | MEDLINE | ID: mdl-31770597
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Diseases / RNA-Binding Proteins / Exosome Multienzyme Ribonuclease Complex / Microcephaly Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: France Country of publication: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Diseases / RNA-Binding Proteins / Exosome Multienzyme Ribonuclease Complex / Microcephaly Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: France Country of publication: Netherlands