嗅球发育不全：软骨发育不全性侏儒症被遗忘的诊断指标。
Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia.
作者信息
Debuf Marie-Julie, Benoit Valérie, Cassart Marie, Gajewska Kalina, Gauquier Nathalie, Meunier Colombine, Rassart Anne, Maystadt Isabelle
机构信息
Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.
Service de Pédiatrie Université Catholique de Louvain Brussels Belgium.
出版信息
Clin Case Rep. 2019 Jun 3;7(7):1352-1354. doi: 10.1002/ccr3.2228. eCollection 2019 Jul.
Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by 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.
弯肢侏儒症（CD）及其变异型无肢弯肢侏儒症（ACD）是由单倍剂量不足引起的。该基因编码一种对胚胎发育至关重要的转录因子，主要在嗅球中表达。嗅球发育不全的检测有助于建立CD或ACD的产前诊断，尽管该体征的发生率尚不清楚。
Zotero 插件