Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

Abstract Background Scientists have previously described an overgrowth syndrome in Saudi patients and named it ‘Upper limb muscle overgrowth with hypoplasia of the index finger’ syndrome. Case presentation We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation...

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Bibliographic Details
Main Authors: Mohammad M. Al-Qattan, Ali Hadadi, Abdullah M. Al-Thunayan, Ahmed A. Eldali, Mohammed A. AlBalwi
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genetics
Subjects:
Muscle
Overgrowth
PIK3CA
Somatic mutation, hypoplasia
Online Access:http://link.springer.com/article/10.1186/s12881-018-0672-z

Internet

http://link.springer.com/article/10.1186/s12881-018-0672-z

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