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Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel <em>DYNC2H1</em> variants
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Majewski syndrome, Short Rib Polydactyly Syndrome (SRPS) type II - a rare case report, with review of literature. | Semantic Scholar
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Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short‐rib polydactyly syndrome type III phenotype - Okamoto - 2015 - Congenital Anomalies - Wiley Online Library
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Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene - ScienceDirect
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Skeletal features observed in short rib polydactyly syndrome patients.... | Download Scientific Diagram
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Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus - ScienceDirect
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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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Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene - ScienceDirect
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