Over the last decade the identification of mutations in the receptors for fibroblast growth
factors (FGFs) has defined essential roles for FGF signaling in both endochondral and …

Fibroblast growth factors (FGF) and their receptors serve many functions in both the
developing and adult organism. Humans contain 18 FGF ligands and four FGF receptors …

Bone and cartilage and their disorders are addressed under the following headings:
functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; …

Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs
between 1 in 15,000 and 40,000 live births. More than 90% of cases are sporadic and there …

Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of skeletal growth and
activating mutations in Fgfr3 cause achondroplasia, the most common genetic form of …

The underlying basis of many forms of syndromic craniosynostosis has been defined on a
molecular level. However, many patients with familial or sporadic craniosynostosis do not …

Mutations in fibroblast growth factor receptors (Fgfrs) are the etiology of many
craniosynostosis and chondrodysplasia syndromes in humans. The phenotypes associated …

During the last few years, it has been demonstrated that some syndromic craniosynostosis
and short‐limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct …

Abstract Pfeiffer syndrome (PS; McKusick MIM 101600) is an autosomal dominant
craniosynostosis syndrome with characteristic craniofacial anomalies and broad thumbs and …

During the past two years, a growing number of mutations have been identified in three of
the four members of the fibroblast growth factor receptor (FGFR) family as causing …