par Debuf, Marie Julie;Benoit, Valérie;Cassart, Marie 
;Gajewska, Kalina ;Gauquier, Nathalie ;Meunier, Colombine;Rassart, Anne;Maystadt, Isabelle
Référence Clinical Case Reports, 7, 7, page (1352-1354)
Publication Publié, 2019-07
;Gajewska, Kalina ;Gauquier, Nathalie ;Meunier, Colombine;Rassart, Anne;Maystadt, IsabelleRéférence Clinical Case Reports, 7, 7, page (1352-1354)
Publication Publié, 2019-07
Article révisé par les pairs
| Résumé : | Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by SOX9 haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs. The detection of agenesis of olfactory bulbs could help establish a prenatal diagnosis of CD or ACD, although prevalence of this sign remains unknown. |
