Trichorhinophalangeal syndrome type I-Clinical, microscopic, and molecular features

Medicine and Dentistry

• Short Stature 100%
• Disease 100%
• Autosomal Dominant Inheritance 100%
• Exon 100%
• Amino Acid 100%
• Hip 100%
• Prematurity 100%
• Ring Finger 100%
• Genetic Counseling 100%
• Cytosine 100%
• Brachydactyly 100%
• Infancy 100%
• Skeleton Malformation 100%
• Thymine 100%
• Philtrum 100%
• Malformation Syndrome 100%
• Middle Phalanx 100%
• Hip Bone 100%
• Craniofacial Malformation 100%

Keyphrases

• Clinical Features 100%
• Molecular Features 100%
• Microscopic Features 100%
• Trichorhinophalangeal Syndrome 100%
• Short Stature 50%
• Autosomal Dominant 50%
• Mutation Analysis 50%
• Exon 4 50%
• Amino Acid Variation 50%
• Varus 50%
• Cytosine 50%
• Pear 50%
• Genetic Counseling 50%
• Slow-growing 50%
• Older Female Patient 50%
• Brachydactyly 50%
• Triangular Shape 50%
• Thymine 50%
• Hairline 50%
• Coxa 50%
• 8q23.3 50%
• Skeletal Abnormalities 50%
• Malformation Syndrome 50%
• Philtrum 50%
• Mutation Carriers 50%
• Craniofacial Abnormalities 50%
• Middle Phalanx 50%
• TRPS1 Gene 50%