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Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss
X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical findings of stippled epyphises, nasomaxillary hypoplasia and short distal phalanges in a male patient. Disease is caused due to the loss of arylsulfatase E activity and o...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Mol Cytogenet |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2015
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4628305/ https://ncbi.nlm.nih.gov/pubmed/26526591 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0187-7 |
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