Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation - Clinical report and review

Keyphrases

• Chaperone 100%
• Tubulin 100%
• Clinical Review 100%
• Clinical Reports 100%
• Hypoparathyroidism-retardation-dysmorphism Syndrome 100%
• Autosomal Recessive 50%
• Seizure 33%
• Retardation 33%
• E Gene 33%
• Congenital Hypothyroidism 33%
• Facial Dysmorphism 33%
• 4q35 33%
• Sanjad-Sakati Syndrome 33%
• Kenny-Caffey Syndrome 33%
• E Protein 16%
• Immunostaining 16%
• Microarray Analysis 16%
• Dysmorphism 16%
• Hypoparathyroidism 16%
• Chromosome 1 16%
• Gene Locus 16%
• Gene Coding 16%
• Mutation Analysis 16%
• Developmental Delay 16%
• Two-year-olds 16%
• Causative Gene 16%
• External Ear 16%
• Forehead 16%
• Long Arm 16%
• Inherited Condition 16%
• Deep Sets 16%
• Lymphoblastoid 16%
• Microduplication 16%
• RP11 16%

Biochemistry, Genetics and Molecular Biology

• Tubulin 100%
• Autosomal Recessive Inheritance 50%
• Microarrays 16%
• Immunostaining 16%
• Chromosome 1 16%
• Gene Locus 16%