Recurrent short rib polydactyly syndrome
Author:
Publisher
Informa UK Limited
Subject
Obstetrics and Gynecology
Link
http://www.tandfonline.com/doi/pdf/10.3109/01443615.2012.698334
Reference10 articles.
1. Second-trimester sonographic detection of short rib-polydactyly syndrome type II (Majewski) following an abnormal maternal serum biochemical screening result
2. DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
3. Short-Rib-Polydactyly Syndrome Presenting with Increased Nuchal Translucency in a High-Risk Family
4. Diagnostic dilemmas in the short rib-polydactyly syndrome group
5. Short Rib-Polydactyly SyndromeType III: Comparison of Ultrasound, Radiology, and Pathology Findings
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1. Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting;BMC Medical Genomics;2023-12-07
2. Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene;Journal of Obstetrics and Gynaecology;2019-10-14
3. Chlamydomonas: Cilia and Ciliopathies;Chlamydomonas: Biotechnology and Biomedicine;2017
4. Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review;Journal of Neuroimaging;2016-12-21
5. Short Rib-Polydactyly Syndromes;Diagnostic Imaging: Obstetrics;2016
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