Background: Brachyolmia is a skeletal disorder with an autosomal mode of inheritance (both
dominant and recessive) in which the patients have a short height, scoliosis and a reduced …

Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare skeletal dysplasia
characterized by severe disproportionate short stature, short hands and feet, normal …

Ischemic stroke is a complicated disease which is affected by environmental factors and
genetic factors. In this field, various studies using whole-exome sequencing (WES) have …

Acromesomelic dysplasia type Maroteaux (AMDM, OMIM# 602875) is an autosomal
recessive disorder characterized by severe short stature, shortened middle and distal …

This study aims to conduct a comprehensive clinical and genetic investigation on a large
family with members having various phenotypes, including acromesomelic dysplasia, type …

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-
dominant genetic disorder, and mutations in the forkhead box L2 (FOXL2) gene are one of …

Genetic skeletal disorders (GSDs) are heritably and clinically varied classes of bone and
cartilage anomalies, characterized by irregular growth/development of the skeleton. They …

Background: Brachyolmia is a skeletal disorder with an autosomal mode of inheritance (both
dominant and recessive) in which the patients have a short height, scoliosis and a reduced …

Background Genetic/hereditary skeletal disorders (GSDs) represent a diverse set of
clinical/genetical conditions that arise from the mutations in different candidate genes …

Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive skeletal
dysplasia with an estimated prevalence of 1: 1,000,000. It is characterized by extreme …