Zusammenfassung
Aarskog-Syndrom.
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Weiterführende Literatur
Aarskog D (1970) A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77:856–861
Bolsin SN, Gillbe C (1985) Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. Anaesthesia 40:1189–1193
Kaname T, Yanagi K, Okamoto N et al (2006) Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. Am J Med Genet A 140:1331–1332
Orrico A, Galli L, Faivre L et al (2010) Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Am J Med Genet A 152A:313–318
Schwartz CE, Gillessen-Kaesbach G, May M et al (2000) Two novel mutations confirm FDG1 is responsible for the Aarskog syndrome. Eur J Hum Genet 8:869–874
Shalev SA, Chervinski E, Weiner E et al (2006) Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Am J Med Genet A 140:162–165
Völter C, Martínez R, Hagen R et al (2014) Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. Eur J Pediatr 173:1373–1376
Zielinski JA, Pack LL (2008) Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report. J Pediatr Orthop 28:729–732
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Vagts, D.A., Emmig, U., Kaltofen, H., Biro, P. (2018). Aarskog-Syndrom. In: Anästhesie bei seltenen Erkrankungen. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44368-2_1-1
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DOI: https://doi.org/10.1007/978-3-662-44368-2_1-1
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