Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy-Reference-Cited by-同舟云学术

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Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy

Published:2010-10-08 Issue:3 Volume:170 Page:393-396
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Dumić Miroslav,Barišić Nina,Rojnić-Putarek Nataša,Kušec Vesna,Stanimirović Andrija,Koehler Katrin,Huebner Angela

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-010-1314-4.pdf

Reference28 articles.

1. Allgrove J, Clayden GS, Grant DB, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1:1284–1286

2. Bentes C, Santos-Bento M, de Sá J et al (2001) Allgrove syndrome in adulthood. Muscle Nerve 24:292–296

3. Brooks BP, Kleta R, Stuart C et al (2005) Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000–2005. Clin Genet 68:215–221

4. Clark AJL, Weber A (1998) Adrenocorticotropin insensitivity syndromes. Endocr Rev 19:828–843

5. Collares CV, Antunes-Rodrigues J, Moreira AC et al (2008) Heterogeneity in the molecular basis of ACTH resistance syndrome. Eur J Endocrinol 159:61–68

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3. Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology;Endocrine;2022-10-30

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