Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (vol 24, pg 2187, 2022)

被引：0

作者：

Boschann, Felix ^{[1
,2
,3
,4
]}

Cogulu, Ozgur ^{[5
]}

Pehlivan, Davut ^{[6
,7
,8
]}

Balachandran, Saranya ^{[9
,10
]}

Vallecillo-Garcia, Pedro ^{[11
]}

Grochowski, Christopher M. ^{[6
]}

Hansmeier, Nils R. ^{[1
,2
,3
,4
,12
,13
,14
]}

Akdemir, Zeynep H. Coban ^{[15
]}

Prada-Medina, Cesar A. ^{[4
]}

Aykut, Ayca ^{[16
]}

Fischer-Zirnsak, Bjoern ^{[1
,4
]}

Badura, Simon ^{[17
]}

Durmaz, Burak ^{[5
]}

Ozkinay, Ferda ^{[16
]}

Haegerling, Rene ^{[1
,2
,3
,4
,12
,13
,14
,15
]}

Posey, Jennifer E. ^{[6
]}

Stricker, Sigmar ^{[11
]}

Gillessen-Kaesbach, Gabriele ^{[9
]}

Spielmann, Malte ^{[9
,10
]}

Horn, Denise ^{[1
,2
,3
]}

Brockmann, Knut ^{[17
]}

Lupski, James R. ^{[6
,7
]}

Kornak, Uwe ^{[1
,2
,3
,4
,18
]}

Schmidt, Julia ^{[9
,18
]}

机构：

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

[2] Free Univ Berlin, Berlin, Germany

[3] Humboldt Univ, Berlin, Germany

[4] Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany

[5] Ege Univ, Dept Pediat Genet, Fac Med, Izmir, Turkiye

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

[7] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA

[8] Baylor Coll Med, Sect Pediat Neurol & Dev Neurosci, Dept Pediat, Houston, TX USA

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

[10] Univ Kiel, Inst Human Genet, Kiel, Germany

[11] Free Univ Berlin, Inst Biochem, Berlin, Germany

[12] Charite Univ Med Berlin, BIH Ctr Regenerat Therapies BCRT, Berlin, Germany

[13] Humboldt Univ, Freie Univ Berlin, Berlin, Germany

[14] Berlin Inst Hlth, Berlin, Germany

[15] UTHealth Sch Publ Hlth, Dept Epidemiol Human Genet & Environm Sci, Houston, TX USA

[16] Ege Univ, Dept Med Genet, Fac Med, Izmir, Turkiye

[17] Univ Med Ctr Gottingen, Dept Pediat & Adolescent Med, Interdisciplinary Pediat Ctr Children Dev Disabil, Gottingen, Germany

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

来源：

GENETICS IN MEDICINE | 2023年 / 25卷 / 05期

关键词：

D O I：

10.1016/j.gim.2023.100799

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：1

共 7 条

[1] Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Boschann, Felix
Cogulu, Muhsin O.
Pehlivan, Davut
Balachandran, Saranya
Vallecillo-Garcia, Pedro
Grochowski, Christopher M.
Hansmeier, Nils R.
Akdemir, Zeynep H. Coban
Prada-Medina, Cesar A.
Aykut, Ayca
Fischer-Zirnsak, Bjorn
Badura, Simon
Durmaz, Burak
Ozkinay, Ferda
Haegerling, Rene
Posey, Jennifer E.
Stricker, Sigmar
Gillessen-Kaesbach, Gabriele
Spielmann, Malte
Horn, Denise
Brockmann, Knut
Lupski, James R.
Kornak, Uwe
Schmidt, Julia
[J]. GENETICS IN MEDICINE, 2022, 24 (10) : 2187 - 2193
[2] Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases
Schmidt, Julia
Cogulu, Muhsin O.
Boschann, Felix
Aykut, Ayca
Posey, Jennifer E.
Nannuru, Kalyan C.
Badura, Simon
Durmaz, Burak
Ozkinay, Ferda
Brockmann, Knut
Gillessen-Kaesbach, Gabriele
Stricker, Sigmar
Economides, Aris N.
Lupski, James R.
Pehlivan, Davut
Kornak, Uwe
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 42 - 42
[3] Biallelic GALM pathogenic variants cause a novel type of galactosemia (vol 21, pg 333, 2019)
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