Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

X-Linked dominant chondrodysplasia punctata

Rudolf Happle · Human Genetics · 1979 · 219 citations

Medicine, Genetics, Molecular Genetics +9

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

X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

Andrea Ballabio, Giancarlo Parenti, Rosalba Carrozzo et al. · Clinical Genetics · 1988 · 55 citations

Life Sciences, Genetics, Molecular Genetics +14

Chondrodysplasia punctata with X;Y translocation

Kazunaga Agematsu, Kenichi Koike, Hironori Morosawa et al. · Human Genetics · 1988 · 42 citations

Medicine, Genetics, Pathology +5