| Literature DB >> 632822 |
L Pavone, F Mollica, A Grasso, A Cao, F Gullotta.
Abstract
The clinical and pathological features of two sisters born from consanguineous parents and affected by the rare Schwartz-Jampel syndrome are reported. The parental consanguinity of these two patients and the findings of electromyographic changes in the mother strongly support an autosomal recessive pattern of inheritance. No response of growth hormone secretion to arginine and insulin stimulation tests was found.Entities:
Mesh：
Substances：
Year: 1978 PMID： 632822 PMCID： PMC492984 DOI： 10.1136/jnnp.41.2.161
Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154