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Human Mutation, ISSN 1059-7794, 04/2014, Volume 35, Issue 4, pp. 424 - 433
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 09/2018, Volume 63, Issue 9, pp. 1003 - 1007
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, is a rare autosomal recessive disorder of the skeleton characterized by... 
COLLAGEN | RECEPTOR DDR2 | SHORT LIMB | GENETICS & HEREDITY | FEATURES | Homozygote | Osteochondrodysplasias - genetics | Humans | Female | Codon, Nonsense | Discoidin Domain Receptor 2 - genetics | Infant, Newborn | Whole Exome Sequencing | Calcification
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Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 6, pp. 601 - 606
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3143 - 3152
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Pediatrics, ISSN 0031-4005, 02/2019, Volume 143, Issue 2, p. e20180539
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Human Mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
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Journal of Clinical Investigation, ISSN 0021-9738, 09/2015, Volume 125, Issue 9, pp. 3585 - 3599
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Human Genetics, ISSN 0340-6717, 6/2015, Volume 134, Issue 6, pp. 553 - 568
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