Nalaganje...

Ataxia, hyperpnoea and mental retardation: was it the molar tooth?

Joubert’s syndrome is a rare autosomal recessive disease, which is under-diagnosed, associated with other brain and body malformations, and carries a poor prognosis. We describe a 6-year-old boy who presented with non-progressive instability of stance and gait, mental retardation and a new onset of...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Amin, Osama S M, Shwani, Sa’ad Seud
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2010
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3047379/
https://ncbi.nlm.nih.gov/pubmed/22736556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.10.2009.2331
Oznake: Označite
Brez oznak, prvi označite!