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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Fig. 1

Pedigree and sequence analysis of the PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome. a Roman numerals refer to generations, and individuals within a generation are numbered from left to right. Proband II-1 is noted with an arrow; the filled symbol refer to the patients; and the slash refers to the dead individual. b-e, the DNA sequence of the CHM c.280delA mutation in the normal control (b) and the patients (c, I-2; d, II-1; and e, II-2). The arrow indicates the mutated base

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