X-Linked Spondyloepiphyseal Dysplasia Tarda: A Novel SEDL Mutation in a Jewish Ashkenazi Family and Clinical Intervention Considerations

Keyphrases

• Jewish 100%
• Clinical Intervention 100%
• Ashkenazi 100%
• Family Intervention 100%
• Spondyloepiphyseal Dysplasia Tarda 100%
• Systemic Complications 50%
• Clinical Signs 50%
• Early Intervention 50%
• Late-onset 50%
• Short Stature 50%
• Trunk 50%
• Jewish Family 50%
• Radiological Signs 50%
• Skeletal Disorders 50%
• Prenatal Counseling 50%
• Single nucleotide Deletion 50%
• SEDL Gene 50%
• Presymptomatic Cases 50%

Immunology and Microbiology

• Trunk 100%
• Body Height 100%

Biochemistry, Genetics and Molecular Biology

• Dysplasia 100%
• Body Height 50%