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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Juven, A; Nambot, S; Piton, A; Jean-Marcais, N; Masurel, A; Callier, P; Marle, N; Mosca-Boidron, AL; Kuentz, P; Philippe, C; Chevarin, M; Duffourd, Y; Gautier, E; Munnich, A; Rio, M; Rondeau, S; El Chehadeh, S; Schaefer, E; Gerard, B; Bouquillon, S; Delorme, CV; Francannet, C; Laffargue, F; Gouas, L; Isidor, B; Vincent, M; Blesson, S; Giuliano, F; Pichon, O; Le Caignec, C; Journel, H; Perrin-Sabourin, L; Fabre-Teste, J; Martin, D; Vieville, G; Dieterich, K; Lacombe, D; Denomme-Pichon, AS; Thauvin-Robinet, C; Faivre, L

Faivre, L (corresponding author), CHU Dijon, Hop Enfants, Ctr Genet, Dijon, France.; Faivre, L (corresponding author), CHU Dijon, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France.; Faivre, L (corresponding author), CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France.; Faivre, L (corresponding author), Univ Bourgogne Franche Comte, Dijon, France.; Faivre, L (corresponding author), Univ Bourgogne Franche Comte, Genet Anomalies Developpement, Inserm 1231, UMR,GAD Team, F-21000 Dijon, France.

EUROPEAN JOURNAL OF HUMAN GENETICS, 2020; 28 (8): 1044

Abstract

Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive pheno......

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