논문
Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review
pp. 25-28|DOI 10.6065/apem.2244052.026
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주제분류소아과학
참고문헌 (10)
- Jones WD, "De novo mutations in MLL cause Wiedemann-Steiner syndrome", Am J Hum Genet, 91, pp.358~364 (2012)
- Aggarwal A, "Wiedemann-Steiner syndrome : novel pathogenic variant and review of literature", Eur J Med Genet, 60, pp.285~288 (2017)
- Stoyle G, "Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome", Endocrinol Diabetes Metab Case Rep, 2018, pp.18~0085 (2018)
- Baer S, "Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability : a study of 33 French cases", Clin Genet, 94, pp.141~152 (2018)
- Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Ramirez-Montano D, "Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A : a case report", Colomb Med(Cali), 50, pp.40~45 (2019)
- Schott DA, "Growth hormone therapy in children with Kabuki syndrome : 1-year treatment results", Horm Res Paediatr, 88, pp.258~264 (2017)
- Zentner GE, "Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome", Am J Med Genet A, 152A, pp.674~686 (2010)
- Hirst L, "Wiedemann-Steiner syndrome : A case report", Clin Case Rep, 9, pp.1158~1162 (2021)
- Ko JM, "Wiedemann-Steiner syndrome with 2 novel KMT2A mutations", J Child Neurol, 32, pp.237~242 (2017)
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