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Title
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
Authors
Lubs, H; Abidi, F E; Echeverri, R; Holloway, L; Meindl, A; Stevenson, R E; Schwartz, C E
Abstract
Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.
Publication
Journal of medical genetics, 2006, Vol 43, Issue 6, pe30