Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body
Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body
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双等位基因 SLURP1 和 SLC39A4 突变的共同遗传导致严重的遗传性皮肤病，伴有全身皮肤脱皮和脱发
DOI：
10.1111/bjd.16912
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发表时间：
2018
影响因子：
10.3
通讯作者：
Kutsche K
中科院分区：
文献类型：
--
作者：
Harms FL;Nampoothiri S;Kortüm F;Thomas J;Panicker VV;Alawi M;Altmüller J;Yesodharan D;Kutsche K
下一代测序（NGS），特别是多基因组和全外显子组测序（WES），是识别单基因疾病病因的工具，在揭示以前未表征的遗传性皮肤病的遗传病因方面发挥了作用。1通过应用NGS，在受影响的个体中发现两种或更多种遗传诊断对明显新颖或非典型临床表现的概念提出了挑战。大约5%的WES提供信息的病例具有双重或多重分子诊断。2
Dear Editor, Next-generation sequencing (NGS), especially multigene panels and whole-exome sequencing (WES), is a tool for identifying the cause of monogenic disorders and has played a role in uncovering the genetic cause of previously uncharacterized genodermatoses. 1 By the application of NGS, the concept of apparently novel or atypical clinical presentations has been challenged by the finding of two or more genetic diagnoses in affected individuals. Approximately 5% of cases in which WES was informative had dual or multiple molecular diagnoses. 2
影响因子：
15.9
作者：
Chatila, TA;Blaeser, F;Bowcock, AM
通讯作者：
Bowcock, AM