"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome.
作者信息
Rumping Lynne, Hennekam Raoul C M, Alders Mariëlle, van Haelst Mieke M
机构信息
Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, 1105, AZ, The Netherlands.
出版信息
Eur J Hum Genet. 2023 Jan;31(1):16-17. doi: 10.1038/s41431-022-01175-x. Epub 2022 Aug 30.
Abstract
摘要
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Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.一种新型Fras1（rdf）突变体中的并指畸形是由指间凋亡信号中断所致。
Dev Dyn. 2016 Apr;245(4):497-507. doi: 10.1002/dvdy.24389. Epub 2016 Feb 24.
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Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.弗雷泽综合征：59例临床研究及诊断标准评估
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Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.由编码一种假定细胞外基质蛋白的FRAS1/Fras1突变引起的弗雷泽综合征和小鼠水泡表型。
Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142.
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Hypothesis: patient with possible disturbance in programmed cell death.假设：可能存在程序性细胞死亡紊乱的患者。
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