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
Objective: We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3). Case report: A 29-year-old, primigravid woman was referred for genetic counseling...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2018-02-01T00:00:00Z.
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