Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome

Medicine and Dentistry

• Allele 100%
• Exome Sequencing 75%
• Single Nucleotide Polymorphism 75%
• Microarray 50%
• Parent 25%
• Gene 25%
• Sepsis 25%
• Diagnosis 25%
• Age 25%
• Evaluation Study 25%
• Patient 25%
• Radiography 25%
• Inpatient 25%
• Prevalence 25%
• Case Report 25%
• Autosomal Recessive Inheritance 25%
• Rib 25%
• Polydactyly 25%
• Autosomal Recessive Disorder 25%
• Pulmonary Hypoplasia 25%
• Thoracic Dystrophy 25%

Biochemistry, Genetics and Molecular Biology

• Mutation 100%
• Allele 100%
• Single-Nucleotide Polymorphism 50%
• Microarray 33%
• Data Base 16%
• Age 16%
• Candidate Gene 16%
• Autosomal Recessive Inheritance 16%
• Bone 16%
• Prevalence 16%
• Autosomal Recessive Disorder 16%