Schwartz-Jampel syndrome

Indian Pediatr. 2004 Mar;41(3):285.

Authors

M L Kulkarni¹, Rajappan Pillai

Affiliation

¹ Department of Pediatrics, J.J.M. Medical College, Davangere, Karnataka, India.

PMID: 15064520

No abstract available

Publication types

Case Reports

MeSH terms

Anticonvulsants / therapeutic use
Biomarkers / blood
Child
Creatine Kinase / blood
Electromyography
Fructose-Bisphosphate Aldolase / blood
Genes, Recessive
Humans
Male
Osteochondrodysplasias / diagnosis*
Osteochondrodysplasias / genetics
Osteochondrodysplasias / pathology
Osteochondrodysplasias / physiopathology
Physical Therapy Modalities

Substances

Anticonvulsants
Biomarkers
Creatine Kinase
Fructose-Bisphosphate Aldolase