Diagnostik und Therapie des Silver-Russell-Syndroms
Author:
Publisher
Springer Science and Business Media LLC
Subject
Surgery,Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/article/10.1007/s00112-017-0310-4/fulltext.html
Reference6 articles.
1. Wakeling EL, Brioude F, Lokulo-Sodipe O et al (2017) Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 13:105–124
2. Azzi S, Salem J, Thibaud N et al (2015) A prospective study validating a clinical scoring system and emonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet 52:446–453
3. Eggermann T, Spengler S, Begemann M, Binder G (2011) Silver-Russell-Kleinwuchs: eine heterogene Imprintingerkrankung. Monatsschr Kinderheilkd 159(6):576
4. Eggermann K, Bliek J, Brioude F et al (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eur J Hum Genet 24(10):1377–1387
5. Binder G, Seidel AK, Martin DD et al (2008) The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration. J Clin Endocrinol Metab 93:1402–1407
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