Mutations in <i>SPECC1L</i>, 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, Elaine H. Zackai(Children's Hospital of Philadelphia), Judith Allanson(Addenbrooke's Hospital), Mindy Li(Children's Hospital of Philadelphia), Cindy Hudson(Shodair Children's Hospital), Donna M. McDonald‐McGinn(Children's Hospital of Philadelphia), Margaret Harr(Children's Hospital of Philadelphia), Matthew A. Deardorff(Children's Hospital of Philadelphia), Elizabeth M. McCormick(Children's Hospital of Philadelphia), Marni J. Falk(Children's Hospital of Philadelphia), Nathan R. Wilson(Massachusetts Institute of Technology), Rosetta Chiavacci(Children's Hospital of Philadelphia), Maximilian Muenke(National Institutes of Health), Irfan Saadi(University of Kansas Medical Center), Håkon Håkonarson(Children's Hospital of Philadelphia), Ariel F. Martinez(National Institutes of Health), Dong Li(Children's Hospital of Philadelphia), Rachel Hart(National Institutes of Health), John P. Johnson(Lawrence Livermore National Laboratory), Daniel T. Swarr(University of Pennsylvania)
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