A second family with multiple epiphyseal dysplasia type 7 caused by the homozygous variant c.676G>A p.(Val226Met) in CANT1

被引：0

作者：

Travessa, Andre ^{[1
,2
,3
]}

Modamio-Hoybjor, Silvia ^{[4
,5
,6
,7
]}

Brites, Luisa ^{[8
]}

Beltran, Miguel ^{[9
]}

Heath, Karen E. ^{[4
,5
,6
,7
]}

Sousa, Ana Berta ^{[1
,2
,3
]}

机构：

[1] ULS Santa Maria, Dept Med Genet, Lisbon, Portugal

[2] ULS Santa Maria, ERN BOND, Lisbon, Portugal

[3] Univ Lisbon, Fac Med, Lisbon, Portugal

[4] Univ Autonoma Madrid UAM, Inst Med & Mol Genet INGEMM, Hosp Univ La Paz, IdiPAZ, Madrid, Spain

[5] ISCIII, CIBERER, Madrid, Spain

[6] UAM, Skeletal Dysplasia Multidisciplinary Unit UMDE, Hosp Univ La Paz, Madrid, Spain

[7] UAM, Hosp Univ La Paz, ERN BOND, Madrid, Spain

[8] ULS Regiao Leiria, Dept Rheumatol, Leiria, Portugal

[9] ULS Santa Maria, Dept Orthopaed Surg, Lisbon, Portugal

来源：

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P06.061.C

引用

页码：1384 / 1384

页数：1

A second family with multiple epiphyseal dysplasia type 7 caused by the homozygous variant c.676G&gt;A p.(Val226Met) in CANT1