- Abstract:
-
The combination of skull defects in the form of enlarged parietal foramina (PFM) and deficient ossification of the clavicles is known as parietal foramina with cleidocranial dysplasia (PFMCCD). It is considered to be distinct from classical cleidocranial dysplasia (CCD) and is listed as a separate OMIM entry (168550). So far, only two families have been reported and the molecular basis of the disorder is unknown. We present a third family with PFMCCD, comprising four affected individuals in t...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1038/sj.ejhg.5201062
-
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- Journal:
- European journal of human genetics : EJHG
- Volume:
- 11
- Issue:
- 11
- Pages:
- 892-895
- Publication date:
- 2003-11-05
- DOI:
- EISSN:
-
1476-5438
- ISSN:
-
1018-4813
- URN:
-
uuid:d9b8fab4-c70f-4c63-9e35-3dd46d865ffd
- Source identifiers:
-
119643
- Local pid:
- pubs:119643
- Copyright date:
- 2003
Journal article
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
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