Mutations in the
diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
These data are consistent with a severe derangement in the rate of proteoglycan production and deposition resulting from mutations in the
diastrophic dysplasia sulfate transporter gene.
James, along with his brother Phillip, was born with a rare condition called
diastrophic dysplasia - often called dwarfism - a rare condition that affects one in 100,000 babies.
The Lusted family, however, have always taken the condition in their stride, and brothers James and Phil have not let their
Diastrophic Dysplasia hold them back.
Mae gan James gyflwr o'r enw
diastrophic dysplasia, sef ffurf brin o gorachedd.
James was born with
diastrophic dysplasia, a form of dwarfism.
He explained: "They dressed me up as Snow White - I'm always the dwarf, so it was a great change." James and older brother Phil, also a dwarf, have a condition called
diastrophic dysplasia.
Yn ystod y gyfres, mae o wedi bod yn ymweld a phobl sydd a gwahanol anableddau neu salwch er mwyn "gweld y person, nid y cyflwr." A'r hyn sy'n gwneud i'r gyfres daro deuddeg ydi bod y cyflwynydd ei hun ag anabledd:
diastrophic dysplasia, sef cyflwr sy'n ei wneud o'n llai na'r gweddill ohonon ni.
James's condition is the rare form of dwarfism,
diastrophic displasia, caused by a unique combination of his parents' genes.
Cafodd James ei eni efo'r cyflwr
Diastrophic dysplasia, ond mae o wedi mynnu byw bywyd mor llawn a phosib, a dydy o ddim yn hoff iawn o'r gair "anabl".
Cafodd James ei eni gyda chyflwr o'r enw
diastrophic dysplasia, sef ffurf brin o gorachedd.
James, who has
diastrophic dysplasia, a rare form of dwarfism, said: "I was really surprised to come away with some medals from Birmingham this year.
