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Journal article
Umair, M.; Eckstein, G.; Rudolph, G.; Strom, T.; Graf, E.; Hendig, D.; Hoover, J.; Alanay, J.; Meitinger, T.; Schmidt, H. und Ahmad, W.
(2018):
Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
In: Clinical Genetics, Vol. 93, No. 4: pp. 913-918