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Craniofacioskeletal Syndrome: An X-Linked Dominant Disorder With Early Lethality in Males
A syndrome with multisystem manifestations has been observed in three generations of a Caucasian family. The findings in seven females provide a composite clinical picture of microcephaly, short stature, small retroverted ears, full tip of the nose overhanging the columella, short philtrum, thin upp...
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| Asıl Yazarlar: | , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2007
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3061623/ https://ncbi.nlm.nih.gov/pubmed/17853486 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.31928 |
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