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Prenatal Diagnosis, ISSN 0197-3851, 01/2013, Volume 33, Issue 1, pp. 75 - 80
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2010, Volume 42, Issue 11, pp. 1021 - 1026
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PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, p. e0153757
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Journal of pediatric genetics, ISSN 2146-4596, 09/2019, Volume 8, Issue 3, p. 163
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations in and has characteristic clinical features. We report two unrelated... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 369 - 377
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Human Molecular Genetics, ISSN 0964-6906, 5/2014, Volume 23, Issue 10, pp. 2511 - 2526
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