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Since various diseases resembling the proband's phenotype required differential analysis, clinical exome sequencing had been performed. The results showed compound heterozygous mutations within the RBM8A gene, confirming the suspicion of TAR problem. A truncating heterozygous variation within the DUOX2 gene, considered associated with transient thyroid dyshormonogenesis kind 6 (TDH6), was also detected and may also explain the proband's mild hypothyroidism. Porous calcium carbonate (CaCO3