Holt‐Oram syndrome in four half‐siblings with unaffected parents: brief clinical report
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
Abstract
The Holt‐Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt‐Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germline.
Details
Original language | English |
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Pages (from-to) | 241-244 |
Number of pages | 4 |
Journal | Clinical Genetics |
Volume | 39 |
Issue number | 4 |
Publication status | Published - Apr 1991 |
Peer-reviewed | Yes |
Externally published | Yes |
External IDs
PubMed | 2070544 |
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Keywords
Keywords
- germline mutation, heart defect, Holt‐Oram, skeletal malformation, syndrome