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Wang T, Yang Y, Dong Q, Zhu H, Liu Y (2020) Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review. Mol Genet
Genomic Med
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characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to
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127:"Acromicric dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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47:. Most cases have occurred randomly for no apparent reason (sporadically). However,
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The disorder is different (but similar to) from other syndromic entities such as
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This condition has been associated with mutations in the
Fibrillin 1 (
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152:"OMIM Entry - # 102370 - ACROMICRIC DYSPLASIA; ACMICD"
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Mutations in this gene have also been associated with
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261:GeneReview/NIH/UW entry on Geleophysic Dysplasia
199:: CS1 maint: numeric names: authors list (
91:Marfanoid–progeroid–lipodystrophy syndrome
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175:RESERVED, INSERM US14-- ALL RIGHTS.
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51:inheritance has not been ruled out.
242:Online Mendelian Inheritance in Man
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177:"Orphanet: Acromicric dysplasia"
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30:Acromicric skeletal dysplasia
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107:Shprintzen-Goldberg syndrome
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246:FIBRILLIN 1; FBN1 - 134797
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131:rarediseases.info.nih.gov
95:Weill-Marchesani syndrome
60:Weill-Marchesani syndrome
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347:Geleophysic Dysplasia
93:, autosomal dominant
56:geleophysic dysplasia
39:is an extremely rare
37:Acromicric dysplasia
22:Acromicric dysplasia
83:stiff skin syndrome
333:External resources
225:"FBN1 fibrillin 1"
49:autosomal dominant
41:inherited disorder
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103:MASS phenotype
99:ectopia lentis
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45:short stature
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184:. Retrieved
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134:. Retrieved
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342:GeneReviews
229:Entrez Gene
97:, isolated
27:Other names
318:DiseasesDB
186:2022-09-22
161:2017-07-01
113:References
374:Category
353:Orphanet
244:(OMIM):
195:cite web
156:omim.org
136:18 March
78:) gene.
70:Genetics
312:C535662
291:: Q77.8
301:102370
105:, and
62:, and
323:32737
307:MeSH
296:OMIM
201:link
138:2019
76:FBN1
358:969
284:ICD
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