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Published in 2023 at "Human Mutation"
DOI: 10.1155/2023/3160653
Abstract: Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest wall deformities has been recently reported, especially…
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Keywords:
somatic double;
deformity;
double inactivation;
nf1 related ... See more keywords