Maraia, R

A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. [electronic resource] - Clinical genetics Jun 1991 - 401-8 p. digital

Publication Type: Case Reports; Journal Article

0009-9163

10.1111/j.1399-0004.1991.tb03050.x doi


Abnormalities, Multiple--etiology
Chromosome Aberrations--etiology
Chromosome Disorders
Chromosome Inversion
Chromosome Mapping
Chromosomes, Human, Pair 17
Collagen--genetics
Female
Genes, Homeobox--genetics
Genes, Recessive--genetics
Humans
Infant, Newborn
Karyotyping
Osteochondrodysplasias--congenital
Phenotype
Syndrome
Thanatophoric Dysplasia--etiology