Progressive osseous heteroplasia (PHO) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and by progressive heterotopic ossification of cutaneous, subcutaneous and deep connective tissues during childhood. We report a case of progressive osseous heteroplasia resulting from a de novo mutation in the GNAS1 gene with only the mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia. This new mutation helps extend the genotype-phenotype correlation further
Eteroplasia ossificante progressiva: una nuova mutazione del gene GNAS1 e review della letteratura / S., Mattia; Mantovani, G.; Guaraldi, N.; Pagano, R; Venuta, Andrea; Ferrari, Paola. - In: MEDICO E BAMBINO. - ISSN 1591-3090. - ELETTRONICO. - 27:(2008), pp. 193-194.
Eteroplasia ossificante progressiva: una nuova mutazione del gene GNAS1 e review della letteratura
VENUTA, Andrea;FERRARI, Paola
2008
Abstract
Progressive osseous heteroplasia (PHO) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and by progressive heterotopic ossification of cutaneous, subcutaneous and deep connective tissues during childhood. We report a case of progressive osseous heteroplasia resulting from a de novo mutation in the GNAS1 gene with only the mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia. This new mutation helps extend the genotype-phenotype correlation further
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