The type XI collagenopathies.

doi:10.1007/s002470050459

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Article

The type XI collagenopathies.

Pediatric radiology - 1 Oct 1998

Spranger J

Abstract excerpt

Type XI collagen is a minor component of cartilage collagen. Mutations of the three genes coding for its proteins are expressed in a peculiar phenotype. Clinical changes include facial anomalies, cleft palate and hearing defects. Ocular changes occur in some disorders. Radiographs show a spectrum...

Topics

Collagen
Ear
Face
Humans
Mutation
Osteochondrodysplasias
Phenotype
Radiography
Syndrome

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