A further heterogeneous locus contained in 8q21 for Freeman-Sheldon syndrome may be suggested by Kristin Hofmann

被引：1

作者：

Li, Xuefu ^{[1
]}

Jiang, Miao ^{[1
]}

Han, Weitian ^{[1
]}

机构：

[1] Key Lab Reprod Hlth Liaoning Prov, Shenyang 110031, Huanggu Distric, Peoples R China

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2013年 / 56卷 / 05期

关键词：

Distal arthrogryposis type 2B; Freeman-Sheldon syndrome; New locus; HALL-SYNDROME; DA2B;

D O I：

10.1016/j.ejmg.2013.02.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Letter to the editor on a recent publication of Hofmann, K., et al. (2011). "7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)." in the European Journal of Medical Genetics. The author may suggest a further heterogeneous locus contained in 8q21 for Freeman-Sheldon syndrome. (C) 2013 Elsevier Masson SAS. All rights reserved.

引用

页码：278 / 278

页数：1

共 6 条

[1] 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B) [J].

Hofmann, Kristin ;

Becker, Jutta ;

Heller, Raoul ;

Boute, Odile ;

Andrieux, Joris ;

Hoyer, Juliane ;

Ekici, Arif B. ;

Reis, Andre ;

Rauch, Anita .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (05) :E495-E500

[2]

Krakowiak PA, 1998, AM J MED GENET, V76, P93, DOI 10.1002/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO

[3]

2-K

[4] Clinical characteristics and natural history of Freeman-Sheldon syndrome [J].

Stevenson, DA ;

Carey, JC ;

Palumbos, J ;

Rutherford, A ;

Dolcourt, J ;

Bamshad, MJ .

PEDIATRICS, 2006, 117 (03) :754-762

[5] Sheldon-Hall syndrome [J].

Toydemir, Reha M. } ;

Bamshad, Michael J. .

ORPHANET JOURNAL OF RARE DISEASES, 2009, 4

[6] Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome [J].

Toydemir, RM ;

Rutherford, A ;

Whitby, FG ;

Jorde, LB ;

Carey, JC ;

Bamshad, MJ .

NATURE GENETICS, 2006, 38 (05) :561-565

← 1 →