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(A) Pedigree of the NB family considered for mutation screening. All available individuals are coded with an E followed by a number. Family members analyzed by whole-exome sequencing are underlined. Germline segregation of the R268C GALNT14 mutation is reported. (B) Pedigree of the small NB family with two heterozygous twins harboring a somatic R268C GALNT14 mutation. (C) Example of the c.802C > T transition as observed by Sanger sequencing.
