Malan syndrome and Marshall–Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3‐year‐ 6 months‐ old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene. NFIX gene, where most of the mutations in Malan ...
Malan syndrome (MALNS), previously referred to as “Sotos syndrome 2” due to its resemblance to Sotos syndrome (SS), is an ultra-rare neurodevelopmental disorder characterized by overgrowth, typical craniofacial features, intellectual disability (ID), a
Malan syndrome Marshall‐Smith syndrome NFIX phenotype phenotype‐genotype Sotos syndrome Weaver syndrome; 机译:马兰综合症;马歇尔-史密斯综合症;NFIX;表型;表型-基因型;索托斯综合症;韦弗综合症; 入库时间 2022-08-21 11:01:37 相似文献 外文文献 中文文献 专利 1. Further delineation of Malan syndrome...
Malan syndrome has recently been characterized to present Sotos-like phenotypes, such as intellectual disability and macrocephaly, with mutations in the NFIX gene. Herein, we report a 38-year-old patient with a novel single adenine insertion mutation in exon 2 of the NFIX gene (c.290_291insA)...
Define Malan. Malan synonyms, Malan pronunciation, Malan translation, English dictionary definition of Malan. n Daniel F . 1874–1959, South African statesman; prime minister . He passed legislation to introduce apartheid Collins English Dictionary – Co
A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding Author links open overlay panelKenshiro Tabata a 1, Aritoshi Iida b 1, Eri Takeshita a, Eiji Nakagawa a, Noriko Sato c, Masayuki Sasaki a, Ken Inoue d, Yu-ichi Goto d e...
A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding 来自 Semantic Scholar 喜欢 0 阅读量: 20 作者:KT A,AI B,ET A,EN A,NS C,MS A,KI D,YIGD E 关键词:Malan syndrome Chiari malformation NFIX 19p13.2 microdeletion Cerebellum ...
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Malan syndrome (MALNS), previously referred to as "Sotos syndrome 2" due to its resemblance to Sotos syndrome (SS), is an ultra-rare neurodevelopmental disorder characterized by overgrowth, typical craniofacial features, intellectual disability (ID), and a range of psychobehavioral, musculoskeletal, ...
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