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Acromesomelic dysplasias (AMD) are a group of skeletal dysplasia characterized by shortening of the middle and distal segments of the limbs. Recently, biallelic PRKG2 variants have been reported to cause a new type of AMD. We detected biallelic novel variant (c.1635‐1G > C) in PRKG2 in two brothers with mild to severe short stature, short limbs, cubitus varus, and brachydactyly. Radiological examination...
Introduction
The aim of this study is to evaluate demographics, clinical data, and survival rates of children with cancer over 22 years, and to compare the outcomes, before and after a national health reform was performed.
Material and Methods
Files of patients, aged 0‐19 years, diagnosed with cancer at the Istanbul University Oncology Institute during 1990‐2012 were evaluated retrospectively....
Mucolipidosis type III gamma (MLIII gamma) is a lysosomal storage disease characterized by joint stiffness, mild coarse face and corneal clouding, which becomes recognizable usually in childhood. Biallelic mutations in the GNPTG gene, which encode the γ subunit of the N-acetylglucosamine-1-phosphotransferase enzyme, are the underlying cause of MLIII gamma. The aim of this study is to evaluate the...
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