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Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).

Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Here we provide the first evidence of a familial...

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Hlavní autoři: Clarke, R A, Singh, S, McKenzie, H, Kearsley, J H, Yip, M Y
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801422/
https://ncbi.nlm.nih.gov/pubmed/8533765
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