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Achondrogenesis, type IB (disorder)

Known as: ACG1B, ACHONDROGENESIS, FRACCARO TYPE, ACHONDROGENESIS, TYPE IB 
National Institutes of Health

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Broader (1)

Achondroplasia
Autosomal recessive inheritanceBreech PresentationHernia, InguinalHydrops Fetalis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias
2019
2019
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2
We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal… 
2010
2010
Imaging the spectrum of DTDST gene mutations
Poster: "ECR 2011 / C-0026 / Imaging the spectrum of DTDST gene mutations" by: "S. F. Miller; Memphis, TN/US" 
2008
2008
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
Background: Mutations in the sulfate transporter gene SLC26A2 (DTDST) cause a continuum of skeletal dysplasia phenotypes that… 
2003
2003
IN VITRO PROTEOGLYCAN SULFATION DERIVED FROM SULFHYDRYL COMPOUNDS IN SULFATE TRANSPORTER CHONDRODYSPLASIAS
Mutations in a sulfate-chloride antiporter gene, the diastrophic dysplasia sulfate transporter (DTDST), have been associated with… 
2002
2002
小児Schmid-Fraccaro syndromeの緊急挿管時に気管支ファイバーが有効だった1症例
2000
2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000)
1996
1996
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
Abstract Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of… 
1994
1994
A Defect intheMetabolic Activation ofSulfate inaPatient with Achondrogenesis TypeIB
Summary Achondrogenesis type Iisaperinatally lethal, short-limb chondrodysplasia. Twotypes, IAandIB,have been distinguished… 
Highly Cited
1988
Highly Cited
1988
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.
We have extended the study of a mild case of type II achondrogenesis-hypochondrogenesis to include biochemical analyses of… 
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