A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.

Abstract

prostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). J Med Genet 2009; 46: 14-20. 6. Seifert W, Beninde J, Hoffmann K, Lindner TH, Bassir C, Aksu F, et al. HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. Eur J Hum Genet 2009; 17: 1570-1576. 7. Seifert W, Kuhnisch J, Tuysuz B, Specker C… (More)
DOI: 10.2340/00015555-1399

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