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

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...

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Detalles Bibliográficos
Autores principales: Debuf, Marie‐Julie, Benoit, Valérie, Cassart, Marie, Gajewska, Kalina, Gauquier, Nathalie, Meunier, Colombine, Rassart, Anne, Maystadt, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637348/
https://www.ncbi.nlm.nih.gov/pubmed/31360485
http://dx.doi.org/10.1002/ccr3.2228

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