Kariminejad, ArianaArianaKariminejadStollfuss, BarbaraBarbaraStollfussLi, YunYunLiBoegershausen, NinaNinaBoegershausenBoss, KarinKarinBossHennekam, Raoul C. M.Raoul C. M.HennekamWollnik, BerndBerndWollnik2017-09-072017-09-072013https://resolver.sub.uni-goettingen.de/purl?gro-2/7231Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5- and LRP6-mediatedWntsignaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype-phenotype correlation. (C) 2013 Wiley Periodicals, Inc.journal_article10.1002/ajmg.a.35920236369410003206497000383142343