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- [37] Different course of lung disease in two siblings with novel ABCA3 mutations European Journal of Pediatrics, 2014, 173 : 1553 - 1556
- [39] Two forms of a disease in the same family: compound heterozygosity in the father and heterozygosity in his sister both with corneal cystinosis, and heterozygous daughter and his other sister both having risks for nephropathic cystinosis EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 856 - 856