Definition of Mandibuloacral. Meaning of Mandibuloacral. Synonyms of Mandibuloacral

Here you will find one or more explanations in English for the word Mandibuloacral. Also in the bottom left of the page several parts of wikipedia pages related to the word Mandibuloacral and, of course, Mandibuloacral synonyms and on the right images related to the word Mandibuloacral.

Definition of Mandibuloacral

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Meaning of Mandibuloacral from wikipedia

- Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, dela**** cranial suture closure, dysplastic...
- testing. Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney...
- destabilization. At phenotype level this manifests with overlapping mandibuloacral dysplasia and progeria syndrome. The resulting transcript and protein...
- Loeys-Dietz syndrome 1, 2 Mandibuloacral dysplasia progeroid syndrome Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type...
- progeroid form Gerodermia osteodysplastica Hallermann-Streiff syndrome Mandibuloacral dysplasia Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome)...
- Lymphatic malformation 6 Mandibuloacral dysplasia progeroid syndrome Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type...
- LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". European Journal of Human Genetics...
- Thr528Met/Met540Thr, and Arg471Cys/Arg527Cys, Arg527Leu result in mandibuloacral dysplasia with progeria-like features. Mutations causing progeria are...
- position 527, at the phenotype level this manifests in overlapping mandibuloacral dysplasia and progeria syndrome) nonsense – point mutation in a sequence...
- LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". Eur J Hum Genet. 20 (11): 1134–40...