A pigmentary skin defect is a new finding in Marshall-Smith syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34076/fullpdf
Reference6 articles.
1. Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities;Adam;Am J Med Genet Part A,2005
2. Marshall-Smith syndrome: Follow-up report of a four and a half year old male;Butler;Am J Med Genet Part A,2004
3. The Marshall-Smith syndrome: A review of the laryngeal complications;Cullen;Eur J Pediatr,1997
4. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome;Malan;Am J Hum Genet,2010
5. Syndrome of accelerated skeletal maturation and relative failure to thrive: A newly recognized clinical growth disorder;Marshall;J Pediatr,1971
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function;Gene Reports;2021-03
2. Marshall–Smith syndrome;Journal of Perinatology;2015-03-27
3. Neonatal Marshall–Smith syndrome;Clinical Dysmorphology;2014-04
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