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Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region

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References

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Wasniewska, M., Raiola, G., Nicoletti, A. et al. Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region. J Endocrinol Invest 33, 282–283 (2010). https://doi.org/10.1007/BF03345793

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