Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms

(2017) Muhammad Afzal et al.   European Journal of Medical Genetics

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

(2016) Igor Fijalkowski et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

LRP4 in neuromuscular junction and bone development and diseases

(2015) Chengyong Shen et al.   BONE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Lrp4 in osteoblasts suppresses bone formation and promotes osteoclastogenesis and bone resorption

(2015) Lei Xiong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Truncating mutations inLRP4lead to a prenatal lethal form of Cenani-Lenz syndrome

(2014) Amanda S. Lindy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Severe Cenani-Lenz syndrome caused by loss of LRP4 function

(2013) Ariana Kariminejad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cenani–Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation

(2013) Tahir Naeem Khan et al.   European Journal of Medical Genetics

WNT signaling in bone homeostasis and disease: from human mutations to treatments

(2013) Roland Baron et al.   NATURE MEDICINE

Syndactyly: phenotypes, genetics and current classification

(2012) Sajid Malik   EUROPEAN JOURNAL OF HUMAN GENETICS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Bone Overgrowth-associated Mutations in theLRP4Gene Impair Sclerostin Facilitator Function

(2011) Olivier Leupin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

(2010) Yun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Cenani–Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report

(2008) Hisham Jarbhou et al.   CLINICAL DYSMORPHOLOGY

Expanding functions of lipoprotein receptors

(2008) Joachim Herz et al.   JOURNAL OF LIPID RESEARCH