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Results: 5

1.

A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.

Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z.

J Matern Fetal Neonatal Med. 2014 Sep;27(14):1502-6. doi: 10.3109/14767058.2013.860520. Epub 2013 Nov 29. Review.

PMID:
24168007
2.

Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

Agochukwu NB, Solomon BD, Benson LJ, Muenke M.

Am J Med Genet A. 2013 Mar;161A(3):453-60. doi: 10.1002/ajmg.a.35233. Epub 2013 Feb 1. Review.

3.

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.

Agochukwu NB, Solomon BD, Gropman AL, Muenke M.

Pediatr Neurol. 2012 Nov;47(5):355-61. doi: 10.1016/j.pediatrneurol.2012.07.004. Review.

4.

Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).

Agochukwu NB, Solomon BD, Doherty ES, Muenke M.

J Craniofac Surg. 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb. Review.

5.

[The molecular genetic background of hereditary craniosynostoses and chondrodysplasias].

Hertz JM, Juncker I, Christensen L, Ƙstergaard JR, Jensen PK.

Ugeskr Laeger. 2001 Sep 3;163(36):4862-7. Review. Danish.

PMID:
11571861
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