Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series
Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series
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Pakistan: Knowledge Bylanes
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Language
English
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Pakistan: Knowledge Bylanes
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Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as “Neurofibromin”, which acts as an inhibitor of oncogene RAS. This gene mutation causes tumours to grow on nerves which results in other systemic abnormalities suc...
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Full title
Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series
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TN_cdi_doaj_primary_oai_doaj_org_article_5101ce7d977c4d51a96fbf27205fbc2b
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5101ce7d977c4d51a96fbf27205fbc2b
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ISSN
0030-9982
E-ISSN
0030-9982
DOI
10.47391/JPMA.10955
