Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasiaURIOSTE, M; RODRIGUEZ, J. I; BOFARULL, J. M et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 342-346, issn 0148-7299Conference Paper

De novo interstitial deletion q16.2q21 on chromosome 6VILLA, A; URIOSTE, M; BOFARULL, J. M et al.American journal of medical genetics. 1995, Vol 55, Num 3, pp 379-383, issn 0148-7299Article