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Hum Mol Genet
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
- M.A. Khan
- V.M. Rupp
- M. Orpinell
- M.S. Hussain
- J. Altmüller
- M.O. Steinmetz
- C. Enzinger
- H. Thiele
- W. Höhne
- G. Nürnberg
- S.M. Baig
- M. Ansar
- P. Nürnberg
- J.B. Vincent
- M.R. Speicher
- P. Gönczy
- C. Windpassinger