'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'.
Appleton
Richard E
RE
Hübner
Christoph
C
Grohmann
Katja
K
Varon
Raymonda
R
D001049:Apnea / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000235:genetics; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics