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Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes | Journal of Medical Genetics
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Full article: Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an “ultrasound first” approach
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Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes | Journal of Medical Genetics
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Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes - Patricia Okiro, Helen Wainwright, Jürgen Spranger, Peter Beighton, 2015
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