[Myotonic chondrodystrophy (or Schwartz-Jampel syndrome). Study of siblings and review of the literature].
Desbois
J C
JC
Guyou
J M
JM
Grenet
P
P
Herrault
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D001706:Biopsy; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D004576:Electromyography; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009460:Neurologic Examination; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology