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

Hormone resistances have been described in association with growth disorders, the majority
involving the growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis or hormones 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 …

Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders
characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic …

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 …

Objectives NPR2 variants are associated with various short stature and bone dysplasia,
such as acromesomelic dysplasia Maroteaux tyoe, individuals with a phenotype similar to …

Background Osteoarthritis (OA) is a degenerative joint disease with a complex genetic
background. Variants in growth differentiation factor 5 (GDF5) have been reported to be …

It has been established that through binding to bone morphogenetic proteins (BMPs), bone
morphogenetic protein receptor IB (BMPR1B) can mediate transforming growth factor β (TGF …

Abstract Introduction: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare
autosomal recessive skeletal dysplasia, characterized by severe dwarfism and …