Načítá se...

“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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:BMC Pediatr
Hlavní autoři: Tibussek, Daniel, Ghosh, Sujal, Huebner, Angela, Schaper, Joerg, Mayatepek, Ertan, Koehler, Katrin
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!