Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation

Medicine and Dentistry

• Syndrome 100%
• Phospholipase C Beta4 80%
• Phenotype 40%
• Guanine Nucleotide Binding Protein 40%
• Autosomal Recessive Inheritance 40%
• Autosomal Dominant Inheritance 40%
• Functional Gastrointestinal Disorder 40%
• Loss of Function Mutation 40%
• Ear 40%
• Sleep 40%
• Follow up 20%
• Respiratory Failure 20%
• Respiratory Disease 20%
• Diagnosis 20%
• Breathing 20%
• Apnea 20%
• Malocclusion 20%
• Hypoplasia 20%
• Polypeptide 20%
• Malformation Syndrome 20%
• Orthodontics 20%
• Feeding 20%
• Helix 20%
• Pathognomonic 20%
• Endothelin 1 20%
• Temporomandibular Joint 20%
• Craniofacial Malformation 20%
• Frameshift Mutation 20%
• Microstomia 20%
• Micrognathism 20%
• Protein G 20%
• Glossoptosis 20%
• External Ear Malformation 20%
• Observation 20%
• Patient 20%
• Child 20%
• Failure to Thrive 20%

Biochemistry, Genetics and Molecular Biology

• Phospholipase C 80%
• Mutation 60%
• Phenotype 40%
• Autosomal Recessive Inheritance 40%
• Loss of Function Mutation 40%
• Autosomal Dominant Inheritance 40%
• Sleep 40%
• Breathing 20%
• G Protein 20%
• Binding Protein 20%
• Nucleotide 20%
• Guanine 20%
• Endothelin 1 20%
• Frameshift Mutation 20%
• Protein G 20%
• Genetics 20%