Ataxia telangiectasia (MDS)
Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
N S den HollanderJ W Wladimiroff
Case report: anesthesia in patients with asphyxiating thoracic dystrophy: Jeune syndrome(opens in new tab)
Revista brasileira de anestesiologia
Deise SalettiFabríccio Marini