Achondrogenesis Type Ii - Neonatal Disorders

Relevant Publications

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

Issue Release: 2022

Novel missense COL2A1 variant in a fetus with achondrogenesis type II.

Issue Release: 2022

A Novel Splicing Variant of in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Issue Release: 2021

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Issue Release: 2021

Radiologic Features of Type II and Type XI Collagenopathies.

Issue Release: 2020

A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis.

Issue Release: 2020

Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography.

Issue Release: 2020

Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.

Issue Release: 2019

Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias.

Issue Release: 2019

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Issue Release: 2015

Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Issue Release: 2015

Stickler syndrome associated with epilepsy: report of three cases.

Issue Release: 2015

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.

Issue Release: 2013

Somatic mosaicism and the phenotypic expression of COL2A1 mutations.

Issue Release: 2012

Sulfate in fetal development.

Issue Release: 2011

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

Issue Release: 2010

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism.

Issue Release: 2010

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Issue Release: 2010

[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases].

Issue Release: 2009

Specific ultrasonographic features of perinatal lethal hypophosphatasia.

Issue Release: 2008

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