Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic...
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Cleidocranial dysostosis (redirect from Cleidocranial dysplasia)
testing. Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome...
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syndrome 1, 2 Mandibuloacral dysplasia progeroid syndrome Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy...
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malformation 6 Mandibuloacral dysplasia progeroid syndrome Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy...
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progeroid form Gerodermia osteodysplastica Hallermann-Streiff syndrome Mandibuloacral dysplasia Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome)...
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destabilization. At phenotype level this manifests with overlapping mandibuloacral dysplasia and progeria syndrome. The resulting transcript and protein product...
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mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". Eur J Hum Genet. 20 (11): 1134–40. doi:10...
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Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal osteosclerotic bone dysplasia Mandibuloacral dysplasia progeroid syndrome MEGF8-related Carpenter...
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mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". European Journal of Human Genetics. 20...
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Thr528Met/Met540Thr, and Arg471Cys/Arg527Cys, Arg527Leu result in mandibuloacral dysplasia with progeria-like features. Mutations causing progeria are defective...
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position 527, at the phenotype level this manifests in overlapping mandibuloacral dysplasia and progeria syndrome) nonsense – point mutation in a sequence...
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Xeroderma pigmentosum-Cockayne syndrome Restrictive dermopathy Mandibuloacral dysplasia Fanconi anaemia Seckel syndrome Ataxia telangiectasia Dyskeratosis...
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Mutual assured destruction, nuclear warfare deterrence concept Mandibuloacral dysplasia Moroccan dirham, the currency of Morocco by ISO 4217 currency code...
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Weber–Cockayne variant of generalized epidermolysis bullosa simplex) Mandibuloacral dysplasia Marinesco–Sjögren syndrome McCune–Albright syndrome McCusick syndrome...
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consisting of generalized poikiloderma appearing in childhood.: 576 Mandibuloacral dysplasia Poikiloderma Skin lesion RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet:...
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decarboxylase deficiency Malouf syndrome Malpuech facial clefting syndrome Mandibuloacral dysplasia Mandibulofacial dysostosis deafness postaxial polydactyly Mandibulofacial...
28 KB (2,469 words) - 04:35, 13 June 2024
medicine madB, a protein-encoding gene in Phycomyces blakesleeanus Mandibuloacral dysplasia with type B lipodystrophy, a type of Laminopathy Carboxybiotin...
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Lessel, Davor (2020-10-19). "Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology"...
50 KB (4,277 words) - 15:44, 4 May 2024
decarboxylase deficiency; 248360; MLYCD Mandibuloacral dysplasia with type B lipodystrophy; 608612; ZMPSTE24 Mandibuloacral dysplasia; 248370; LMNA Mannosidosis,...
234 KB (18,877 words) - 15:43, 9 May 2024