Background Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy)
were screened with a gene panel incorporating 759 OMIM genes associated …

Objectives Atypia of undetermined significance (AUS) or follicular lesion of undetermined
significance (FLUS) is a heterogeneous category of fine needle aspiration cytology (FNAC); …

Purpose: The aim of this study was to determine the rate and significance of TERT promoter
mutations that have been recently described in adult thyroid cancer (TC) but not yet in the …

Objectives: Characterization of the phenotypic, pathological, radiological, and genetic findings
in 2 Saudi Arabian families with anoctaminopathies, and limb girdle muscular dystrophy …

Congenital disorders of glycosylation are often associated with muscle weakness in
apparent isolation or as part of a multi-systemic disorder. We report here the clinical and …

Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and
USA. However, to the best of our knowledge, no cases of LGMD1D have been reported …

… This research topic is still comparatively new to the Middle East and North Africa (MENA)
region. Nineteen countries constitute the MENA region: Algeria, Bahrain, Egypt, Iran, Iraq, Israel…

Juvenile hyaline fibromatosis (JHF) is a rare hereditary disease characterized by the deposition
of hyaline ground substance, which is described as fibrillogranular material on electron …

Aim To correlate selected clinical and ultrasonographic (US) characteristics with the final
histopathological diagnosis in patients with atypia of undetermined significance (AUS) and …

Context Lung metastases are common in pediatric thyroid cancer (TC). We present an
analysis of a series of lung metastases in pediatric TC. Patients and Methods Data from 20 …