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...

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Detalles Bibliográficos
Autores principales: Vrečar, Irena, Rudolf, Gorazd, Peterlin, Borut, Lovrecic, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628305/
https://www.ncbi.nlm.nih.gov/pubmed/26526591
http://dx.doi.org/10.1186/s13039-015-0187-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628305/
https://www.ncbi.nlm.nih.gov/pubmed/26526591
http://dx.doi.org/10.1186/s13039-015-0187-7

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