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Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-09-14 , DOI: 10.1111/cge.13821
Elise Brischoux-Boucher 1 , Eric Dahlen 2 , Céline Gronier 3 , François Nobili 4 , Estelle Marcoux 5 , Fowzan S Alkuraya 6 , Lionel Van Maldergem 1, 7, 8
Affiliation  

BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families.
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中文翻译:

分叉鼻是 BNAR 综合征(一种 FREM1 相关疾病)的唯一表现。

BNAR 综合征 (MIM608980) 是一种非常罕见的疾病:自 2002 年首次描述以来,共报告了属于三个无关家族的 9 例病例。 独特的临床特征是鼻尖的二裂及其与肛门直肠和/或肾脏异常的关联. 在研究原始埃及家族后阐明了其由双等位基因FREM1错义或无义突变组成的分子基础,并在来自阿富汗和巴基斯坦的两个家族中得到证实。我们描述了来自土耳其的第四个家族,其迹象挑战了三个报告家族的描述所建议的诊断标准。
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更新日期:2020-10-21
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