Achondrogenesis Type 1b - Neonatal Disorders

Relevant Publications

Achondrogenesis type 1B: The need for clinical vigilance in the first trimester fetus with cystic hygroma and micromelic limbs.

Issue Release: 2024

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Issue Release: 2022

New subtype of familial achondrogenesis type IA (Houston-Harris).

Issue Release: 2019

Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the Gene.

Issue Release: 2019

New subtype of familial achondrogenesis type IA (Houston-Harris).

Issue Release: 2018

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Issue Release: 2010

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Issue Release: 2010

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Issue Release: 2008

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

Issue Release: 2008

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.

Issue Release: 2006

Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

Issue Release: 2004

Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.

Issue Release: 2004

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

Issue Release: 2003

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.

Issue Release: 2001

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.

Issue Release: 2001

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.

Issue Release: 2001

Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.

Issue Release: 1998

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.

Issue Release: 1998

Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans.

Issue Release: 1998

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Achondrogenesis Type 1b - Neonatal Disorders

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