Dergiler / Journal of Clinical Research in Pediatric Endocrinology / 2016 / Cilt: 8 - Sayı: 1

Genetic Defects Affecting Adrenal Development

Sayfa
11–11
DOI
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LİPSON, A., VİLAİN, E. (2016). Genetic Defects Affecting Adrenal Development. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 8 - Sayı: 1, 11–11. https://ajindex.com/articles/212645

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Kaynakça (4)

  1. Ferraz-De-Souza B, Achermann JC. Disorders of Adrenal Development. In: Flück CE, Miller WL (eds). Disorders of the Human Adrenal Cortex Endocrine Development, 1st ed. Basel, Karger, 2008:19-32.
  2. Achermann JC, Vilain EJ. X-Linked Adrenal Hypoplasia Congenita. 2001 Nov 20 [Updated 2013 Oct 17]. In: Pagon RA, Adam MP, Ardinger HH (eds). Gene Reviews® [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2016.
  3. Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 1999;84:4335-4340.
  4. Pedreira CC, Savarirayan R, Zacharin MR. IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. J Pediatr 2004;144:274- 277. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet 2012;44:788-792.