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Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

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...

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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

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