Article

A rare case of patient with neurofibromatosis type 1 in a genotype-phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

2021-02-08

Abstract excerpt

We are reporting a case of neurofibromatosis type 1 in a genotype-phenotype correlation and chromosomal microarray test revealed a submicroscopic deletion on the long arm of chromosome 17, which is associated with a more severe phenotype. The presence of a more severe phenotype warrants precise monitoring of complications.

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Literature Corpus work: 03503464-648c-5d1f-a60f-7ca480054939
DOI: 10.22541/au.161281374.44664936/v1

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