Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes. (Original Article)

Authors :: Kohlhase, J.
Schubert, L.
Liebers, M.
Rauch, A.
Becker, K.
Mohammed, S.N.
Newbury-Ecob, R.
Reardon, W.
Source :: Journal of Medical Genetics. July 2003, Vol. 40 Issue 7, p473, 6 p.
Publication Year :: 2003
Abstract: Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide [...]

Subjects :: Gene mutations -- Analysis -- Research -- Genetic aspects
Genetic disorders -- Research -- Genetic aspects
Chromosome abnormalities -- Analysis -- Research -- Genetic aspects
Eye -- Movement disorders
Health
Analysis
Research
Genetic aspects

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