Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

Abstract 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...

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Bibliographic Details
Main Authors: Marie‐Julie Debuf, Valérie Benoit, Marie Cassart, Kalina Gajewska, Nathalie Gauquier, Colombine Meunier, Anne Rassart, Isabelle Maystadt
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Clinical Case Reports
Subjects:
Online Access:https://doi.org/10.1002/ccr3.2228