achondrogenesis type IB

[MIM*600972]

achondrogenesis with severely disorganized intracartilaginous ossification; autosomal recessive inheritance, caused by mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) on chromosome 5q.

Synonym(s): Parenti-Fraccaro syndrome

Farlex Partner Medical Dictionary © Farlex 2012

a·chon·dro·gen·e·sis type IB

(ā-kon-drō-jen'ĕ-sis tīp)

Achondrogenesis with severely disorganized intracartilaginous ossification; autosomal recessive inheritance, caused by mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) on chromosome 5q.
Synonym(s): Parenti-Fraccaro syndrome.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

References in periodicals archive

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

Novel nonsense mutation causes analbuminemia in a Moroccan family

A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet.

Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type IB homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.

Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype

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