Abstract | UNLABELLED: CONCLUSION: The case documents the natural history of MONA and establishes a link between MMP2 deficiency and heart development, and given the recurring cardiac association, we suggest that all MONA patients be examined for possible cardiac defects.
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Authors | Filip Christian Castberg, Susanne Kjaergaard, Rebecca A Mosig, Mollie Lobl, Chiara Martignetti, John A Martignetti, Charlotte Myrup, Marek Zak |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 172
Issue 12
Pg. 1657-63
(Dec 2013)
ISSN: 1432-1076 [Electronic] Germany |
PMID | 23900523
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- Antirheumatic Agents
- Matrix Metalloproteinase 2
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Topics |
- Abnormalities, Multiple
(diagnosis, genetics)
- Antirheumatic Agents
(therapeutic use)
- Arthritis, Juvenile
(diagnosis)
- Child, Preschool
- Diagnosis, Differential
- Disease Progression
- Hajdu-Cheney Syndrome
(diagnosis, drug therapy)
- Heart Defects, Congenital
(diagnosis, genetics)
- Humans
- Male
- Matrix Metalloproteinase 2
(analysis, deficiency, genetics)
- Mutation, Missense
- Sequence Analysis, DNA
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