Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2 cases

被引：2

作者：

Caudevilla Lafuente, Pilar ^{[1
]}

Izquierdo-Alvarez, Silvia ^{[2
]}

Labarta Aizpun, Jose Ignacio ^{[3
]}

机构：

[1] Hosp Univ Miguel Servet, Serv Pediat, Zaragoza, Spain

[2] Hosp Univ Miguel Servet, Serv Bioquim Clin, Secc Genet Clin, Zaragoza, Spain

[3] Hosp Univ Miguel Servet, Serv Pediat, Unidad Endocrinol Pediat, Zaragoza, Spain

来源：

MEDICINA CLINICA | 2019年 / 153卷 / 08期

关键词：

D O I：

10.1016/j.medcli.2018.08.017

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：336 / 337

页数：2

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[2] New perspectives on osteogenesis imperfecta [J].

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NATURE REVIEWS ENDOCRINOLOGY, 2011, 7 (09) :540-557

[3] Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [J].

Malfait, Fransiska ;

Symoens, Sofie ;

Goemans, Nathalie ;

Gyftodimou, Yolanda ;

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Mortier, Geert ;

Nampoothiri, Sheela ;

Petersen, Michael Bjorn ;

De Paepe, Anne .

ORPHANET JOURNAL OF RARE DISEASES, 2013, 8

[4]

Rochrbach M, 2012, AM J MED GENET C, V175, p160C

[5]

Van Dijk FS, 2014, AM J MED GENET A, V1470, p164A

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