Articles with "somatic double" as a keyword



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Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity

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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… read more here.

Keywords: somatic double; deformity; double inactivation; nf1 related ... See more keywords