Ann Lab Med.  2017 Nov;37(6):559-562. 10.3343/alm.2017.37.6.559.

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene

• Oh J
• Song JS
• Park JE
• Jang SY
• Ki CS
• Kim DK

• KMID: 2426004
• DOI: http://doi.org/10.3343/alm.2017.37.6.559

Abstract

No abstract available.

MeSH Terms

Antley-Bixler Syndrome Phenotype*

Figure

• 

  Fig. 1 Radiographs of the patient's hands, elbows, and feet. X-rays showing arachnodactyly of the hands (A), bilateral elbow dysplasia and subluxation of the proximal radioulnar joint (B), and bilateral shortening and clinodactyly of the fourth metatarsal bones (C).

• 

  Fig. 2 Partial genomic DNA sequences from the POR genes of the patient and her parents. The patient has compound heterozygous mutations, c.529G>C and c.1370G>A, which are carried by her father and mother, respectively. Symbol [=] means wild type.

Reference

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