Article Figures & Data
Figures
- Figure 1
Timeline summarizing the patient’s (Twin A1) information, clinical presentation, clinical impression, investigations, working diagnosis, final diagnosis, and management and follow-up.
- Figure 2
Timeline summarizing the patient’s (Twin A2) follow-up, diagnosis, management, final diagnosis, and follow up.
- Figure 3
Timeline summarizing the patient’s (Twin B) information, clinical presentation, impression, investigation and management, final diagnosis, and follow-up.
- Figure 4
Sequence chromatogram showing a bialleic nonsense mutation changing adenine to thiamine at coding position 1412 (c.A1412T) leading to change of the amino acid Leucine to a stop codon with truncation of the protein at amino acid 471 (p.471 L>X).
