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

Abstract Background Cenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalanges, radioulnar synostosis and mesomelic shortness of the limbs, with lo...

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Main Authors: Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2018-07-01
Series:BMC Medical Genetics
Subjects:
Cenani-Lenz syndactyly syndrome
Whole exome sequencing
LRP4 gene
Online Access:http://link.springer.com/article/10.1186/s12881-018-0646-1

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http://link.springer.com/article/10.1186/s12881-018-0646-1

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