Syndactyly Cenani Lenz Type Latest Advances

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

Journal: Molecular genetics & genomic medicine

Published: February 26, 2023

Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.

Journal: Journal of human genetics

Published: May 19, 2021

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.

Journal: American journal of medical genetics. Part A

Published: September 03, 2020

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.

Journal: Clinical dysmorphology

Published: January 03, 2020

Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.

Journal: The journal of gene medicine

Published: July 26, 2019

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.

Journal: American journal of medical genetics. Part A

Published: June 19, 2018

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Journal: BMC medical genetics

Published: April 22, 2018

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

Journal: Human mutation

Published: December 26, 2017

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

Journal: European journal of medical genetics

Published: January 11, 2017

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

Journal: Journal of medical genetics

Published: October 27, 2014

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

Journal: American journal of medical genetics. Part A

Published: December 23, 2013

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

Journal: European journal of medical genetics

Published: January 29, 2013

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A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.

Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.

Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.

Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.

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 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 syndactyly syndrome - a case report of a family with isolated syndactyly.

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

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

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.

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

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

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

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