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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.
Am J Hum Genet. 1996 Aug;59(2):331-42.
Am J Hum Genet. 1996.
PMID: 8755919
Free PMC article.
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.
Bradburn JM, Hall BD.
Bradburn JM, et al.
Am J Med Genet. 1995 Nov 6;59(2):234-7. doi: 10.1002/ajmg.1320590222.
Am J Med Genet. 1995.
PMID: 8588592
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