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

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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",

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language = "Undefined/Unknown",

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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

C2 - 28261977

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 -