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Updated: Jun 26, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[LEOPARD syndrome]
Lars Kjaersgård Hansen1, Kirsten Risby, Anette Bygum
1Paediatrisk Afdeling, Odense Universitetshospital, DK-5000 Odense C. lars.kjaersgaard.hansen@ouh.regionsyddanmark.dk
Abstract:
We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome.
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