نتایج جستجو برای: severe short stature
تعداد نتایج: 752790 فیلتر نتایج به سال:
Journal:
:Indian Journal of Human Genetics
2013
Journal:
:International Journal of Research in Medical Sciences
2017
Journal:
:Journal of Nepal Paediatric Society
2016
2017
Leila Dardour
Filip Roelens
Valerie Race
Erika Souche
Maureen Holvoet
Koen Devriendt
Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six un...
Journal:
:Journal of the Royal Army Medical Corps
1976
Journal:
:Clinical endocrinology and endocrine surgery
2013
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