Chondrodysplasia punctata with X;Y translocation

Heterogeneity of Chondrodysplasia punctata

Jürgen W. Spranger, John M. Opitz, U. Bidder · Human Genetics · 1971 · 239 citations

Medicine, Genetics, Pathology +9

A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides

Yutaka Nakahori, Kounosuke Mitani, Masao Yamada et al. · Nucleic Acids Research · 1986 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

Cynthia J. Curry, R. Ellen Magenis, Michael G. Brown et al. · New England Journal of Medicine · 1984 · 191 citations

Life Sciences, Genetics, Molecular Genetics +17

Chondrodysplasia punctata—23 cases of a mild and relatively common variety

Leslie J. Sheffield, David M. Danks, Valerie Mayne et al. · The Journal of Pediatrics · 1976 · 129 citations

Medicine, Pathology, Histopathology +3

Chondrodysplasia punctata — Rhizomelic form

Enid F. Gilbert, John M. Opitz, Jürgen W. Spranger et al. · European Journal of Pediatrics · 1976 · 85 citations

Medicine, Oral Pathology, Pathology +10