Article
[Clinical and molecular study in a family with cleidocranial dysplasia].
Archivos argentinos de pediatria - 1 Dec 2017
Callea Michele, Fattori Fabiana, Bertini Enrico S, Yavuz Izzet, Bellacchio Emanuele, Avendaño Andrea, Araque Dianora, Lacruz-Rengel María A, Da Silva Gloria, Cammarata-Scalisi Francisco
Abstract excerpt
Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is Estudio clínico y molecular en una familia con displasia cleidocraneal Clinical and molecular study in a family with cleidocranial dysplasia produced by mutations in the RUNX2...
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