Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals

Keyphrases

• Molecular Characterization 100%
• Phenotypic Characterization 100%
• Focal Dermal Hypoplasia 100%
• Medical History 50%
• Clinical Diagnostic Criteria 50%
• PORCN 50%
• Genotype 25%
• Hypoplastic 25%
• Exon 25%
• Obstructive Sleep Apnea 25%
• Comorbidity 25%
• Natural History 25%
• Molecular Sequencing 25%
• Clinical Features 25%
• Gene-rich Regions 25%
• History Data 25%
• Sequence Variants 25%
• Chromosomal Microarray 25%
• Disease Pattern 25%
• Patchy 25%
• Ectoderm 25%
• Clinical Description 25%
• Mesoderm 25%
• Heterozygous mutation 25%
• Gorlin Syndrome 25%
• Phenotypic Spectrum 25%
• Large Deletion 25%
• Tonsillectomy 25%
• Chromosomal Deletion 25%
• All Diseases 25%
• Foot Deformities 25%
• Mosaic mutation 25%
• Split Hand 25%
• X-linked Dominant Disorder 25%
• Ocular Malformation 25%
• PORCN Gene 25%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Genotyping 100%
• Mosaicism 100%
• Epiblast 100%
• Mesoderm 100%
• Ectoderm 100%
• Comorbidity 100%

Medicine and Dentistry

• Focal Dermal Hypoplasia 100%
• Diseases 60%
• Medical History 40%
• Diagnostic Criterion 40%
• Obstructive Sleep Apnea 20%
• Mosaicism 20%
• Clinical Feature 20%
• Epiblast 20%
• Exon 20%
• Foot Malformation 20%
• Tonsillectomy 20%
• Chromosome Deletion 20%
• Mesoderm 20%
• Eye Malformation 20%
• Ectrodactyly 20%
• Comorbidity 20%