Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

S Symoens, W Steyaert, L Demuynck, A de Paepe, Karin Diderich, F Malfait, PJ Coucke

Research output: Contribution to journal › Article › Academic › peer-review

12 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1047-1050
Number of pages	4
Journal	American Journal of Medical Genetics Part A
Volume	173
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.38135
Publication status	Published - 2017

Access to Document

@article{b69bf67fe4b5484884681daff0dea686,

title = "Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome",

author = "S Symoens and W Steyaert and L Demuynck and {de Paepe}, A and Karin Diderich and F Malfait and PJ Coucke",

year = "2017",

doi = "10.1002/ajmg.a.38135",

language = "Undefined/Unknown",

volume = "173",

pages = "1047--1050",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

AU - Symoens, S

AU - Steyaert, W

AU - Demuynck, L

AU - de Paepe, A

AU - Diderich, Karin

AU - Malfait, F

AU - Coucke, PJ

PY - 2017

Y1 - 2017

U2 - 10.1002/ajmg.a.38135

DO - 10.1002/ajmg.a.38135

M3 - Article

SN - 1552-4825

VL - 173

SP - 1047

EP - 1050

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 4

ER -