Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases

被引：0

作者：

Schmidt, Julia ^{[1
]}

Cogulu, Muhsin O. ^{[2
]}

Boschann, Felix ^{[3
]}

Aykut, Ayca ^{[2
]}

Posey, Jennifer E. ^{[4
]}

Nannuru, Kalyan C. ^{[5
]}

Badura, Simon ^{[6
]}

Durmaz, Burak ^{[2
]}

Ozkinay, Ferda ^{[2
]}

Brockmann, Knut ^{[6
]}

Gillessen-Kaesbach, Gabriele ^{[7
]}

Stricker, Sigmar ^{[8
]}

Economides, Aris N.

Lupski, James R. ^{[4
]}

Pehlivan, Davut ^{[4
]}

Kornak, Uwe ^{[1
]}

机构：

[1] Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany

[2] Ege Univ, Dept Genet, Fac Med, Izmir, Turkey

[3] Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[5] Regeneron Pharmaceut, Tarrytown, NY USA

[6] Univ Med Ctr Gottingen, Interdisciplinary Pediat Ctr Children Dev Disabi, Gottingen, Germany

[7] Univ Lubeck, Inst Human Genet, Lubeck, Germany

[8] Free Univ Berlin, Inst Chem & Biochem, Berlin, Germany

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：

C08.5

引用

页码：42 / 42

页数：1

共 2 条