par Simonis, Nicolas 
;Migeotte, Isabelle ;Lambert, Nelle ;Perazzolo, Camille ;de Silva, Deepthi C;Dimitrov, Boyan;Heinrichs, Claudine ;Janssens, Sandra;Kerr, Bronwyn;Mortier, Geert;Van Vliet, Guy ;Lepage, Philippe ;Casimir, Georges ;Abramowicz, Marc ;Smits, Guillaume ;Vilain, Catheline
Référence Journal of medical genetics, 50, 9, page (585-592)
Publication Publié, 2013-06
;Migeotte, Isabelle ;Lambert, Nelle ;Perazzolo, Camille ;de Silva, Deepthi C;Dimitrov, Boyan;Heinrichs, Claudine ;Janssens, Sandra;Kerr, Bronwyn;Mortier, Geert;Van Vliet, Guy ;Lepage, Philippe ;Casimir, Georges ;Abramowicz, Marc ;Smits, Guillaume ;Vilain, Catheline Référence Journal of medical genetics, 50, 9, page (585-592)
Publication Publié, 2013-06
Article révisé par les pairs
| Résumé : | Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE and ectrodactyly have been identified, the genetic cause of Hartsfield syndrome remains unknown. We hypothesised that a single key developmental gene may underlie the co-occurrence of HPE and ectrodactyly. |
