Cargando…
Schwartz–Jampel syndrome with gastroduodenal bleeding
Schwartz–Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz–Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic discharg...
Autores principales: | Polat, İpek, Karaoğlu, Pakize, Yiş, Uluç, Kurul, Semra Hız |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108135/ https://www.ncbi.nlm.nih.gov/pubmed/27857801 http://dx.doi.org/10.4103/1817-1745.193351 |
Ejemplares similares
-
The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome
por: Topcu, Yasemin, et al.
Publicado: (2013) -
Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases
por: Topçu, Yasemin, et al.
Publicado: (2014) -
Coexistence of myositis, transverse myelitis, and Guillain Barré syndrome following Mycoplasma pneumoniae infection in an adolescent
por: Topcu, Yasemin, et al.
Publicado: (2013) -
Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases
por: Karaoğlu, Pakize, et al.
Publicado: (2015) -
Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl
por: Topcu, Yasemin, et al.
Publicado: (2013)