Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome
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3. Three new cases of spondylocarpotarsal synostosis syndrome: Clinical and radiographic studies
4. GDF5 Is a Second Locus for Multiple-Synostosis Syndrome
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2. Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report;BMC Musculoskeletal Disorders;2021-01-06
3. Spondylocarpotarsal synostosis syndrome: “Bat wings” spinal fusions and “ladybug” carpal coalitions;Pediatrics & Neonatology;2019-08
4. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination;Journal of Human Genetics;2018-09-18
5. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3;The American Journal of Human Genetics;2018-06
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