Ann Lab Med.  2018 May;38(3):283-286. 10.3343/alm.2018.38.3.283.

PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)

• Park JE
• Lee EJ
• Ki CS
• Kee C

• KMID: 2403467
• DOI: http://doi.org/10.3343/alm.2018.38.3.283

Abstract

No abstract available.

Figure

• 

  Fig. 1 Pedigree of the family with Axenfeld-Rieger syndrome (ARS) and results of PITX2 mutation analysis for the proband and proband's second daughter. (A) Open symbols indicate no signs or symptoms of ARS. Filled symbols represent affected individuals. Grey symbols indicate an individual who likely carries, but was not tested for, the PITX2 mutation. The arrow indicates the proband. (B) Sequencing analysis identified c.475_476delCT (p.Leu159Valfs*39) mutation.

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