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Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
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Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008 Nov 01; 146A(21):2804-9.
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PubMed
subject areas
Abnormalities, Multiple
Adolescent
Base Sequence
Child
Craniofacial Abnormalities
DNA Primers
Ectromelia
Exons
Female
Genes, Recessive
Genitalia
Heart Defects, Congenital
Humans
Male
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction
Receptor Tyrosine Kinase-like Orphan Receptors
Receptors, Cell Surface
Spine
Syndrome
authors with profiles
Daniela Del Gaudio