Congenital anomaly of skeletal bone

The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and… (More)

Despite years of research into bone formation, the mechanisms by which transcription factors specify growth plate development and… (More)

SHP-2 (encoded by PTPN11) is a ubiquitously expressed protein tyrosine phosphatase required for signal transduction by multiple… (More)

Bone morphogenetic proteins (BMPs) are a highly conserved class of signaling molecules that induce ectopic cartilage and bone… (More)

The objective of the paper is to provide the revision of the Nosology of Constitutional Disorders of Bone that incorporates newly… (More)

Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal malformation syndrome with high penetrance and variable… (More)

Campomelic dysplasia (CD; MIM 114290), an autosomal dominant skeletal malformation syndrome with XY sex reversal, is caused by… (More)

SOX9 is a transcription factor that is essential for chondrogenesis and testis differentiation, and haploinsufficiency of SOX9… (More)

The skeletal malformation syndrome campomelic dysplasia (CMD1) is caused by mutations within the SOX9 gene or chromosomal… (More)

Timed-pregnant Wistar rats were injected intraperitoneally with V2O5 at 0.33, 1.0 and 3.0 mg/kg/day on days 6-15 of gestation… (More)