Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype
Open Access
- 1 January 2013
- journal article
- Published by Springer Science and Business Media LLC in BMC Genetics
- Vol. 14 (1), 95
- https://doi.org/10.1186/1471-2156-14-95
Abstract
Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.This publication has 19 references indexed in Scilit:
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