jcrpe-2018-0229.R2 Case Report DOI: 10.4274/jcrpe.galenos.2019.2018.0229 A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation Sol Kang, M.D.

Continued genetic characterization of glycogen storage disease type IV patients may aid in predicting clinical outcomes in these patients and may also help in identifying

Autosomal dominant polycystic kidney disease with liver involvement and left ventricular noncompaction: An unusual coexistence.. A male patient aged 63 years was admitted to

Anahtar Kelimeler: Malign lenfoma, litik kemik metastazı, kranial metastaz, refrakter

Computed tomography also revealed a lytic lesion at medullary location in proximal radial diaphyseal area that caused a bow-like appearance in inner tabula and cortical

A RARE CASE OF COLORECTAL CANCER METASTASIZING TO THE ZYGOMATIC BONE The metastasis of colorectal cancers to the maxillofacial region is extremely rare, but its prognosis is

Objective: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease and nephrolithiasis is frequent among ADPKD patients

Mucolipidosis type II in a low birth weight preterm infant: A case report.. Düşük doğum ağırlıklı preterm bir infantta mukolipidozis tip

Unlike the other types of MPS, in Hunter syndrome, a pathognomonic cutaneous lesion which is known as the pebbling sign may be seen in the scapular region in particular, but may