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“Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports

BACKGROUND: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the c...

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Библиографические подробности
Опубликовано в: :BMC Pediatr
Главные авторы: Tibussek, Daniel, Ghosh, Sujal, Huebner, Angela, Schaper, Joerg, Mayatepek, Ertan, Koehler, Katrin
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5769402/
https://ncbi.nlm.nih.gov/pubmed/29334914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-017-0973-y
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