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Clinical presentations of 23 half‐siblings from a mosaic neurofibromatosis type 1 sperm donor

15 Apr 2015

Abstract excerpt

The Danish sperm donor number 7042 has fathered several offspring with neurofibromatosis type 1 (NF1) worldwide. NF1 is caused by loss-of-function mutations in the NF1 gene and more than 1000 NF1 mutations are identified. Analysis of the donor sperm demonstrated gonosomal mosaicism with an intragenic deletion involving exons 15-29 in the NF1 gene. At the two Danish reference centres for NF1 patients, we evaluated...

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PMID: 25872886
DOI: 10.1111/cge.12600

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