Disease: Syndactyly Cenani Lenz type
- A novel APC mutation defines a second locus for Cenani-Lenz syndrome
- A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2
- A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review
- A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin
- A unique case of Cenani-Lenz type syndactyly without flexor or intrinsic function
- A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification
- A variant of Cenani-Lenz type syndactyly
- Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia
- Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
- Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways
- Cenani-Lenz syndrome in father and daughter
- Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation
- Cenani-Lenz syndrome-like limb anomaly with more severe involvement of left side
- Cenani-Lenz type of syndactyly: a complex type of syndactyly with multiple synostoses
- Dermatoglyphics in patients with Cenani-Lenz type syndactyly: studies in a new case
- Genetic defects and disorders at the neuromuscular junction
- Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives
- Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers
- Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family
- Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms
- Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome
- Present nosology of the Cenani-Lenz type of syndactyly
- Severe Cenani-Lenz syndrome caused by loss of LRP4 function
- Total syndactylism with mesomelic shortening of the arm, radioulnar and metacarpal synostoses and disorganization of the phalanges ("cenani syndactylism") (author's transl)
- Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome
- Two unusual types of syndactyly in the same family; Cenani-Lenz type and "new" type versus severe type I syndactyly?