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Journal article

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Abstract:

We describe a recessively inherited frontonasal malformation characterized by a distinctive facial appearance, with hypertelorism, wide nasal bridge, short nasal ridge, bifid nasal tip, broad columella, widely separated slit-like nares, long philtrum with prominent bilateral swellings, and midline notch in the upper lip and alveolus. Additional recurrent features present in a minority of individuals have been upper eyelid ptosis and midline dermoid cysts of craniofacial structures. Assuming r...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2009.04.009

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Journal:
American journal of human genetics
Volume:
84
Issue:
5
Pages:
698-705
Publication date:
2009-05-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:10289cb0-df9a-4969-9608-b476067c14b8
Source identifiers:
119916
Local pid:
pubs:119916

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