par Jacquemin, Valérie 
;Versbraegen, Nassim ;Duerinckx, Sarah ;Massart, Annick ;Soblet, Julie ;Perazzolo, Camille ;Deconinck, Nicolas ;Brischoux-Boucher, Elise;De Leener, Anne ;Revencu, Nicole;Janssens, Sandra;Moorgat, Stèphanie;Blaumeiser, Bettina;Avela, Kristiina;Touraine, Renaud;Abou Jaoude, Imad;Keymolen, Kathelijn;Saugier-Veber, P.;Lenaerts, Tom ;Abramowicz, Marc ;Pirson, Isabelle
Référence Human genomics, 17, 1, page (16)
Publication Publié, 2023-03-01
;Versbraegen, Nassim ;Duerinckx, Sarah ;Massart, Annick ;Soblet, Julie ;Perazzolo, Camille ;Deconinck, Nicolas ;Brischoux-Boucher, Elise;De Leener, Anne ;Revencu, Nicole;Janssens, Sandra;Moorgat, Stèphanie;Blaumeiser, Bettina;Avela, Kristiina;Touraine, Renaud;Abou Jaoude, Imad;Keymolen, Kathelijn;Saugier-Veber, P.;Lenaerts, Tom ;Abramowicz, Marc ;Pirson, Isabelle Référence Human genomics, 17, 1, page (16)
Publication Publié, 2023-03-01
Article révisé par les pairs
| Résumé : | Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a subset of cases with prenatal onset and absence of another primary cause, e.g., brain hemorrhage. Published series report a Mendelian cause in only a minority of cases. In this study, we analyzed exome data of PCH patients in search of novel causal genes and addressed the possibility of an underlying oligogenic mode of inheritance for PCH. |
