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chondrodysplasia punctata
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PKDCC
GNPNAT1
EBP
PEX7
ARSE
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
lipid biosynthetic process
establishment of protein localization to peroxisome
peroxisomal membrane
peroxisome organization
lipid metabolic process
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Disorder of peroxisomal function
Mouse Phenotypes - Congenital abnormality
OMIM - Congenital disorder
OMIM - Skeletal and Integument Related Disorders
OMIM - Skeletal dysplasia
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Literature
Most Relevant Literature
A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia p…
Management of Tracheobronchial Stenosis in Chondrodysplasia Punctata.
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RC…
Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-R…
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Clinical Trials
Most Relevant Clinical Trials
Rhizomelic Chondrodysplasia Punctata Registry
RCDP Natural History Study
Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Sugg…
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Choleste…
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
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