All individuals with variants in gene KRT5

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00046337 - PubMed: Prontera 2015, Journal: Prontera 2015 5-generation family, 1 affected (SHORT syndrome), heterozygous carriers have short stature F yes Italy - - 0 - - SHORT see paper; SHORT syndrome, high IGFI levels, CNS defects, developmental delay, pronounced progeroid appearance, ... 1 1 B. Augello
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