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Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family |
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| Authors: | Solveig Schulz Claudia Gerloff Susanne Ledig Dorothea Langer Mariannne Volleth Katayoon Shirneshan Peter Wieacker |
| Affiliation: | 1. Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany;2. Clinic of Obstetrics and Gynecology, Otto-von-Guericke University Magdeburg, Germany;3. Institute of Pathology, Otto-von-Guericke University Magdeburg, Germany;4. Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany Institute of Human Genetics, Westfalian Wilhelms University Münster, Germany |
| Abstract: | |
| Keywords: | prenatal diagnosis Roberts syndrome reduction defects heterochromatin repulsion ESCO2 gene frameshift mutation |