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Quoted phrase not found in phrase index: "Mandibulofacial dysostosis with alopecia"
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Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
Sabrautzki S, Sandholzer MA, Lorenz-Depiereux B, Brommage R, Przemeck G, Vargas Panesso IL, Vernaleken A, Garrett L, Baron K, Yildirim AO, Rozman J, Rathkolb B, Gau C, Hans W, Hoelter SM, Marschall S, Stoeger C, Becker L, Fuchs H, Gailus-Durner V, Klingenspor M, Klopstock T, Lengger C, Stefanie L, Wolf E, Strom TM, Wurst W, de Angelis MH. Sabrautzki S, et al. Mamm Genome. 2016 Dec;27(11-12):587-598. doi: 10.1007/s00335-016-9664-5. Epub 2016 Sep 26. Mamm Genome. 2016. PMID: 27671791 Free PMC article.
The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysostosis with alopecia (MFDA, OMIM 616367) syndrome. ...In general, heterozygous and homozygous mice demonstrated inter-individual d …
The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysos …
Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
Zechi-Ceide RM, Guion-Almeida ML, Jehee FS, Rocha K, Passos-Bueno MR. Zechi-Ceide RM, et al. Am J Med Genet A. 2010 Jul;152A(7):1838-40. doi: 10.1002/ajmg.a.33477. Am J Med Genet A. 2010. PMID: 20583178
We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. ...The similar clinical signs, ma …
We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft pa …