- Abstract:
-
Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation syndromes. Here, we describe a human syndrome featuring craniosynostosis, maxillary hypoplasia, delayed tooth eruption, and supernumerary teeth.We performed homozygosity mapping in three unrelated consanguineous Pakistani families and localized the syndrome to a region in chromosome 9. Mutational analysis of candidate genes in the regio...
Expand abstract - Publisher copy:
- 10.1016/j.ajhg.2011.05.024
-
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- Journal:
- American Journal of Human Genetics
- Volume:
- 89
- Issue:
- 1
- Pages:
- 67-81
- Publication date:
- 2011-07-15
- DOI:
- EISSN:
-
1537-6605
- ISSN:
-
0002-9297
- URN:
-
uuid:1902e823-a6a8-4885-a40d-803672df6ebf
- Source identifiers:
-
179329
- Local pid:
- pubs:179329
- Language:
- English
- Copyright date:
- 2011
Journal article
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth
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