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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
View in:
PubMed
subject areas
Chromosomes, Human, Pair 17
Comparative Genomic Hybridization
Craniofacial Abnormalities
Dishevelled Proteins
Dwarfism
Female
Genes, Dominant
Genes, Recessive
Genetic Heterogeneity
Genetic Predisposition to Disease
Genomic Structural Variation
Humans
Limb Deformities, Congenital
Male
Oxidoreductases
Receptor Tyrosine Kinase-like Orphan Receptors
Urogenital Abnormalities
Whole Genome Sequencing
Wnt Signaling Pathway
authors with profiles
RICHARD GIBBS
JAMES LUPSKI
DONNA MUZNY
VERNON SUTTON
CHRISTOPHER GROCHOWSKI