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Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

Authors :
Boschann F
Cogulu O
Pehlivan D
Balachandran S
Vallecillo-Garcia P
Grochowski CM
Hansmeier NR
Coban Akdemir ZH
Prada-Medina CA
Aykut A
Fischer-Zirnsak B
Badura S
Durmaz B
Ozkinay F
Hägerling R
Posey JE
Stricker S
Gillessen-Kaesbach G
Spielmann M
Horn D
Brockmann K
Lupski JR
Kornak U
Schmidt J
Source :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 May; Vol. 25 (5), pp. 100799. Date of Electronic Publication: 2023 Feb 28.
Publication Year :
2023

Details

Language :
English
ISSN :
1530-0366
Volume :
25
Issue :
5
Database :
MEDLINE
Journal :
Genetics in medicine : official journal of the American College of Medical Genetics
Accession number :
36853234
Full Text :
https://doi.org/10.1016/j.gim.2023.100799