Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1
Open Access
- 1 May 2004
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (5), 387-393
- https://doi.org/10.1136/jmg.2003.016154
Abstract
Informed consent was obtained from all participants in accordance with institutional guidelines for human materials and subjects. Evaluation was by review of medical records and physical examination, including findings for mental retardation, developmental delay, microcephaly, facial dysmorphism, epilepsy, and Hirschsprung disease, as well as CT and/or MRI brain images. The subjects participating in this study were named S1 to S42. Subjects who are not listed in the tables, such as S12, have not been identified with an abnormality in ZFHX1B, or the analysis of that patient has not yet been completed.Keywords
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