Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Paul Kruszka, Dong Li, Margaret H. Harr, Nathan R. Wilson, Daniel Swarr, Elizabeth M. McCormick, Rosetta M. Chiavacci, Mindy Li, Ariel F. Martinez, Rachel A. Hart, Donna M. McDonald-McGinn, Matthew A. Deardorff, Marni J. Falk, Judith E. Allanson, Cindy Hudson, John P. Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H. Zackai*
Dive into the research topics of 'Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome'. Together they form a unique fingerprint.