Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1

被引：5
作者：
Jewell, Rosalyn [1 ]
Sarkar, Ajoy [2 ]
Jones, Rebecca [4 ,5 ]
Wilkinson, Ashley [3 ]
Martin, Kate [3 ]
Arundel, Paul [5 ,7 ]
Balasubramanian, Meena [5 ,6 ]
机构：
[1] Leeds Teaching Hosp NHS Trust, Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England
[2] Clin Genet Serv, City Hosp Campus, Nottingham, England
[3] Nottingham Univ Hosp NHS Trust, Dept Cytogenet, Nottingham, England
[4] Univ Sheffield, Dept Paediat Psychol, Sheffield, S Yorkshire, England
[5] Univ Sheffield, Highly Specialised Severe Complex & Atyp OI Serv, Sheffield, S Yorkshire, England
[6] Univ Sheffield, Sheffield Clin Genet Serv, Sheffield Childrens NHS Fdn Trust, Sheffield, S Yorkshire, England
[7] Univ Sheffield, Acad Unit Child Hlth, Sheffield, S Yorkshire, England
来源：
CLINICAL DYSMORPHOLOGY | 2017年 / 26卷 / 04期
关键词：
TRICHODENTOOSSEOUS SYNDROME; MUTATION;
D O I：
10.1097/MCD.0000000000000186
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：228 / 230
页数：3
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