Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3

Keyphrases

• Peruvian 100%
• Trichothiodystrophy 100%
• Glutaric Aciduria Type 3 100%
• Contiguous Gene Deletion 100%
• Intellectual Disability 66%
• Short Stature 66%
• Chromosomal Microarray 66%
• MPLKIP 66%
• Homozygous mutation 66%
• Peru 33%
• Microscopy 33%
• Young Female 33%
• Rare Genetic Disease 33%
• Ectodermal 33%
• Autosomal Recessive 33%
• Microcephaly 33%
• Developmental Delay 33%
• Chromosome 7 33%
• Sulfur 33%
• Molecular Technology 33%

Medicine and Dentistry

• Gene Deletion 100%
• Aciduria 100%
• Trichothiodystrophy 100%
• Short Stature 66%
• Microarray Analysis 66%
• Disease 33%
• Microcephaly 33%
• Trichorrhexis invaginata 33%
• Chromosome 7 33%
• Developmental Delay 33%
• Autosomal Recessive Inheritance 33%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Body Height 100%
• Microarrays 100%
• Gene Deletion 100%
• Genetics 50%
• Chromosome 7 50%
• Autosomal Recessive Inheritance 50%