Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development. ("Diastrophism" is a general word referring to...

of human dwarfism cases, followed by spondyloepiphyseal dysplasia and diastrophic dysplasia. The most recognizable and most common form of dwarfism in...

known as SLC26A2, is mutated in almost 90% of the patients, causing diastrophic dysplasia. It is a sulfate transporter, transmembrane glycoprotein implicated...

humans is encoded by the SLC26A2 gene. SLC26A2 is also called the diastrophic dysplasia sulfate transporter (DTDST), and was first described by Hästbacka...

syndrome Cornea plana 2 Diarrhea 1, secretory chloride, congenital Diastrophic dysplasia Epilepsy, progressive myoclonic 1A (Unverricht–Lundborg) Glycine...

this trait is often a symptom of an underlying condition, such as Diastrophic dysplasia Hypermobility spectrum disorder Rheumatoid arthritis It does not...

Cyclopia Cystic hygroma Dandy–Walker malformation Diaphragmatic hernia Diastrophic dysplasia Double outlet right ventricle Duodenal atresia Ebstein's anomaly...

Canadian-American comedian. Davis has a form of dwarfism called diastrophic dysplasia and is 3 feet 6 inches (107 cm) tall. In November 1999, she placed...

type 2, are similar to those of another skeletal disorder called diastrophic dysplasia. Atelosteogenesis, type 2 tends to be more severe, however.[citation...

Diarrhea polyendocrinopathy infections X linked Diastematomyelia Diastrophic dysplasia Dibasic aminoaciduria 2 Dibasic aminoaciduria type 1 Dicarboxylicaminoaciduria...

Amy and one of their four children, Zachary. Roloff was born with diastrophic dysplasia, a degenerative dwarfism that caused him to have fifteen operations...

aminopeptidase 2 ESM1: Endothelial cell-specific molecule 1 DTDST: diastrophic dysplasia sulfate transporter EIF4E1B: encoding protein Eukaryotic translation...

vena cava). Skeletal Dysplasias: Ellis van Creveld syndrome, diastrophic dysplasia, chondrodysplasia punctata, camptomelic dysplasia, atelosteogenesis,...

in humans have been shown to be caused by genes of this family. Diastrophic dysplasia, congenital chloride diarrhea, and Pendred syndrome are caused by...

type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia...

Roloff Roloff is an American actor, author, and businessman with diastrophic dysplasia. He was featured on the TV show Little People Big World. 1961–  Mexico...

provide the family with additional income. Matt's type of dwarfism, diastrophic dysplasia, resulted in numerous childhood surgeries. He walks with the aid...

(January 1996). "Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene". Nature Genetics. 12 (1): 100–102. doi:10...

many other conditions such as pseudoachondroplasa, diastrophic dysplasia, spondyloepiphyseal dysplasia and hypochondroplasia. The RGA can provide links...

by inability to navigate within the environment Diastrophic dysplasia, an autosomal recessive dysplasia which affects cartilage and bone development Developmental...

disease, X-linked hypophosphatemia DTD, SLC26A2 chondrodysplasias/ Diastrophic dysplasia EAAT1, SLC1A3, GLAST1 Neurodegeneration, Amyotrophic lateral sclerosis...

Marja-Liisa; Kere, Juha; Saarialho–Kere, Ulpu (26 June 2016). "SLC26A2 (Diastrophic Dysplasia Sulfate Transporter) is Expressed in Developing and Mature Cartilage...

radiographic features in a proband that support the diagnosis of ACG1B. Diastrophic dysplasia Achondrogenesis type 1A Unger, Sheila; Superti-Furga, Andrea (2023-03-16)...

tufting enteropathy, congenital; 613217; EPCAM Diastrophic dysplasia; 222600; SLC26A2 Diastrophic dysplasia, broad bone-platyspondylic variant; 222600; SLC26A2...

such as Achondroplasia, Diastrophic Dysplasia, Hypochondroplasia, Phosphate Diabetes, and Congenital Spondyloepiphyseal Dysplasia. One group covers the...

Redlynch State College, a state school in Redlynch. Patterson has Diastrophic dysplasia, a joint fusion disability connected to dwarfism. Other sports he...