Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Contents
Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP) play a role in the development of the skeleton. Carrying both germline mutations has not been previously reported; howev...
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Full title
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report
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TN_cdi_doaj_primary_oai_doaj_org_article_01050638aada46d6a2a539e23c80c091
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_01050638aada46d6a2a539e23c80c091
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ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-023-03920-7
