Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33463/fullpdf
Reference11 articles.
1. Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups;Borochowitz;J Pediatr,1988
2. Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism;Faivre;Am J Med Genet Part A,2004
3. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father;Forzano;Am J Med Genet Part A,2007
4. Contributo allo studio delle malattie del mesenchima osteopoietico. L'achondrogenesi;Fraccaro;Folia Hered Pathol,1951
5. Die Achondrogenesis-ein einfach recessives Erbmerkmal;Grebe;Folia Hered Pathol,1953
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