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Achondrogenesis, type IB (disorder)

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

Related topics

Related topics

8 relations

Broader (1)

Achondroplasia
Autosomal recessive inheritanceBreech PresentationHernia, InguinalHydrops Fetalis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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" 
2009
2009
Gezielte genetische Diagnostik nach Ersttrimester-Ultraschallscreening bei letaler fetaler Skelettdysplasie
INTRODUCTION: Skeletal dysplasias constitute an important differential diagnosis in chromosomally inconspicuous fetuses with… 
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)
1994
1994
A Defect intheMetabolic Activation ofSulfate inaPatient with Achondrogenesis TypeIB
Summary Achondrogenesis type Iisaperinatally lethal, short-limb chondrodysplasia. Twotypes, IAandIB,have been distinguished… 
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