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

10.1186/s12881-018-0646-1

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Bibliographic Details
Main Authors:	Hettiaracchchi, D, Bonnard, C, Jayawardana, S.M.A, Ng, A.Y.J, Tohari, S, Venkatesh, B, Reversade, B, Singaraja, R, Dissanayake, V.H.W
Other Authors:	PAEDIATRICS
Format:	Article
Published:	2020
Subjects:	adolescent adult Article autosomal recessive disorder bilateral postaxial oligodactyly bone radiography case report Cenani Lenz syndactyly syndrome clinical article face dysmorphia female finger malformation gene genetic variability germline mutation heterozygote homozygote human LRP4 gene male Sanger sequencing Sri Lanka Sri Lankan syndactyly whole exome sequencing young adult abnormalities consanguinity finger genetics mutation pedigree radius synostosis toe ulna Adolescent Adult Consanguinity Female Fingers Homozygote Humans Male Mutation Pedigree Radius Syndactyly Synostosis Toes Ulna Young Adult
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/181189
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Institution:	National University of Singapore

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