Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

MeSH terms

• Adult
• Base Sequence
• Chromosome Disorders / diagnosis
• Chromosome Disorders / genetics
• Comparative Genomic Hybridization*
• Ellis-Van Creveld Syndrome / diagnosis*
• Ellis-Van Creveld Syndrome / genetics
• Female
• Genes, Recessive*
• Humans
• Intercellular Signaling Peptides and Proteins
• Male
• Membrane Proteins
• Molecular Sequence Data
• Pregnancy
• Prenatal Diagnosis / methods*
• Proteins / genetics*