Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report

Parathyroid hormone-like hormone (PTHLH) plays an important role in bone formation. Several skeletal dysplasias have been described that are associated with disruption of PTHLH functioning. Here we report on a new patient with a 898 Kb duplication on chromosome 12p11.22 including the PTHLH gene. The...

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Detalles Bibliográficos
Autores principales: Tacke, Carline E., Terheggen-Lagro, Suzanne W.J., Boot, Annemieke M., Plomp, Astrid S., Polstra, Abeltje M., van Rijn, Rick R., Struijs, Peter A.A., van den Berg, Henk, Mooij, Christiaan F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8085669/
https://www.ncbi.nlm.nih.gov/pubmed/33981811
http://dx.doi.org/10.1016/j.bonr.2021.101067

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