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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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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author Debuf, Marie‐Julie
Benoit, Valérie
Cassart, Marie
Gajewska, Kalina
Gauquier, Nathalie
Meunier, Colombine
Rassart, Anne
Maystadt, Isabelle
author_facet Debuf, Marie‐Julie
Benoit, Valérie
Cassart, Marie
Gajewska, Kalina
Gauquier, Nathalie
Meunier, Colombine
Rassart, Anne
Maystadt, Isabelle
author_sort Debuf, Marie‐Julie
collection PubMed
description 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.
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spelling pubmed-66373482019-07-29 Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia Debuf, Marie‐Julie Benoit, Valérie Cassart, Marie Gajewska, Kalina Gauquier, Nathalie Meunier, Colombine Rassart, Anne Maystadt, Isabelle Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-06-03 /pmc/articles/PMC6637348/ /pubmed/31360485 http://dx.doi.org/10.1002/ccr3.2228 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Debuf, Marie‐Julie
Benoit, Valérie
Cassart, Marie
Gajewska, Kalina
Gauquier, Nathalie
Meunier, Colombine
Rassart, Anne
Maystadt, Isabelle
Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_full Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_fullStr Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_full_unstemmed Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_short Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_sort agenesis of olfactory bulbs: a forgotten diagnostic indicator of acampomelic campomelic dysplasia
topic Case Reports
url 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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