Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae
malformations. In recent years, extensive clinical and molecular diagnosis advancements …

Abstract Purpose of Review The goal of the review is to provide a comprehensive overview
of the current understanding of the mechanisms underlying variation in human stature …

POPDC1 also known as BVES, is a highly conserved transmembrane protein, important for
striated muscle function and homeostasis. Pathogenic variants in the POPDC1 gene are …

Acromesomelic dysplasia Grebe type (AMD Grebe type) is an autosomal recessive trait
characterized by short stature, shortened limbs and malformations of the hands and feet. It is …

Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal
recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic …

Genetic skeletal disorders (GSDs) constitute a heterogeneous, rare and a distinctive group
of rare bone growth disorders, leading to abnormal size and shape of the skeleton …

Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders
characterized by abnormal development, remodeling, and growth of the human skeleton's …

Background Population diversity is important and rare disease isolates can frequently reveal
novel homozygous or biallelic mutations that lead to expanded clinical heterogeneity, with …

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

Introduction Brachydactyly is a bone development abnormality presenting with variable
phenotypes and different transmission patterns. Mutations in GDF5 (Growth and …