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Quoted phrase not found in phrase index: "Spondyloepimetaphyseal dysplasia, Krakow type"
Page 1
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.
Am J Hum Genet. 2019.
PMID: 30773277
Free PMC article.
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. ...Although an aut …
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abn …
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review.
Sulko J, Kozlowski K.
Sulko J, et al.
J Pediatr Orthop B. 2008 Nov;17(6):323-7. doi: 10.1097/BPB.0b013e328311d357.
J Pediatr Orthop B. 2008.
PMID: 18841068
We have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type, which is associated with marked articular hypermobility. ...The radiographic differential …
We have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia wit …
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