Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13052-015-0209-4
Reference17 articles.
1. Gripp KW, Lin AE. Costello Syndrome. GeneReviews® University of Washington, Initial Posting: August 29, 2006; Last Update: January 12, 2012.
2. Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, et al. Germline mutations in HRAS proto-oncogen cause Costello syndrome. Nat Genet. 2005;37:1038–40.
3. Kerr B, Delrue M-A, Sigaudy S, Perveen R, Marche M, Burgelin I, et al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet. 2006;43:401–5. doi: 10.1136/jmg.2005.040352 .
4. Pelc M, Ciara E, Krajewska-Walasek M. Zespół Costello jako przykład rzadkich zaburzeń funkcji szlaku sygnalnego Ras-MAPK: obraz kliniczny i diagnostyka molekularna choroby. Pediatr Pol. 2012;87:19–32.
5. Gripp KW, Scott CI, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, et al. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet. 2002;108:80–7.
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1. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients;Journal of the European Academy of Dermatology and Venereology;2024-04-10
2. Management of nutritional and gastrointestinal issues in RASopathies : A narrative review;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12
3. Recombinant GH treatment in a case of Costello syndrome with a 5-year follow-up;Clinical Pediatric Endocrinology;2020
4. Pathogenesis of Growth Failure in Rasopathies;PEDIATR ENDOCR REV P;2019
5. Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome;Clinical Dysmorphology;2017-04
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