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A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants
Acromesomelic dysplasia, type Maroteaux is caused by variants in NPR2. It is a severe chondrodysplasia resulting in shortening of the middle and distal segments of the limbs. Limb length at birth may be normal but decreased growth becomes obvious in the first 2 years of life. Here we present an 11-y...
Tallennettuna:
| Julkaisussa: | Radiol Case Rep |
|---|---|
| Päätekijät: | , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2021
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8213897/ https://ncbi.nlm.nih.gov/pubmed/34178199 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.radcr.2021.05.011 |
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