نتایج جستجو برای: severe short stature

تعداد نتایج: 752790  

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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