Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.

Poli, Antoine; Vial, Yoann; Haye, Damien; Passemard, Sandrine; Schiff, Manuel; Nasser, Hala; Delanoe, Catherine; Cuadro, Emma; Kom, Rémi; Elanga, Narcisse; Favre, Anne; Drunat, Séverine; Verloes, Alain

Poli, Antoine; Vial, Yoann; Haye, Damien; Passemard, Sandrine; Schiff, Manuel; Nasser, Hala; Delanoe, Catherine; Cuadro, Emma; Kom, Rémi; Elanga, Narcisse; Favre, Anne; Drunat, Séverine; Verloes, Alain.

Afiliação

Poli A; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.
Vial Y; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.
Haye D; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.
Passemard S; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.
Schiff M; Department of Child Neurology and Metabolic Disorders, APHP-Robert DEBRE University Hospital, Paris, France.
Nasser H; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.
Delanoe C; Department of Child Neurology and Metabolic Disorders, APHP-Robert DEBRE University Hospital, Paris, France.
Cuadro E; Department of Child Neurology and Metabolic Disorders, APHP-Robert DEBRE University Hospital, Paris, France.
Kom R; Department of Pediatrics, Cayenne General Hospital, French Guiana, France.
Elanga N; Department of Pediatrics, Cayenne General Hospital, French Guiana, France.
Favre A; Department of Pediatrics, Cayenne General Hospital, French Guiana, France.
Drunat S; Department of Pediatrics, Cayenne General Hospital, French Guiana, France.
Verloes A; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.