Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings

Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodys...

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Xehetasun bibliografikoak
Argitaratua izan da:Int J Clin Exp Med
Egile Nagusiak: Valdes-Flores, Margarita, Hidalgo-Bravo, Alberto, Casas-Avila, L, Chima-Galan, Carmen, Hazan-Lasri, Eric J, Pineda-Gomez, Ernesto, Lopez-Estrada, Druso, Zenteno, Juan C
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: e-Century Publishing Corporation 2014
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4276157/
https://ncbi.nlm.nih.gov/pubmed/25550899
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