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■ Abbreviation / Long Form : DSD / diaphanospondylodysostosis

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Total Number of Papers: 10
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Abbreviation:   DSD  (>> Co-occurring Abbreviation)
Long Form:   diaphanospondylodysostosis
 Abbreviation Variation
 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2019 Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder. US, WES
2018 Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. ---
2017 Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. ISD
2016 Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. BMPER, ISD
2015 BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis. ---
2012 Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis. ---
2012 Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics. TIS, VEPTR
2011 A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). BMPER
2010 BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. ---
10  2005 Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. ---