Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and thrombocytopenia
Background. Jacobsen syndrome is a rare syndrome with variable phenotypic expression depending on the breakpoints and the size of 11q deletion. There is presented a wide range of phenotypes of varying severity. Detailed molecular cytogenetic analysis leads to better knowledge of genetic causes of th...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Vilnius University Press
2012-03-01
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| Series: | Acta Medica Lituanica |
| Subjects: | |
| Online Access: | https://www.journals.vu.lt/AML/article/view/21568 |