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

10.1186/s12881-018-0646-1

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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

id	sg-nus-scholar.10635-181189
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spelling	sg-nus-scholar.10635-1811892024-04-24T05:32:17Z Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly Hettiaracchchi, D Bonnard, C Jayawardana, S.M.A Ng, A.Y.J Tohari, S Venkatesh, B Reversade, B Singaraja, R Dissanayake, V.H.W PAEDIATRICS MEDICINE 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 syndactyly synostosis toe ulna Adolescent Adult Consanguinity Female Fingers Homozygote Humans Male Mutation Pedigree Radius Syndactyly Synostosis Toes Ulna Young Adult 10.1186/s12881-018-0646-1 BMC Medical Genetics 19 1 125 2020-10-27T10:08:38Z 2020-10-27T10:08:38Z 2018 Article Hettiaracchchi, D, Bonnard, C, Jayawardana, S.M.A, Ng, A.Y.J, Tohari, S, Venkatesh, B, Reversade, B, Singaraja, R, Dissanayake, V.H.W (2018). Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. BMC Medical Genetics 19 (1) : 125. ScholarBank@NUS Repository. https://doi.org/10.1186/s12881-018-0646-1 14712350 https://scholarbank.nus.edu.sg/handle/10635/181189 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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 syndactyly synostosis toe ulna Adolescent Adult Consanguinity Female Fingers Homozygote Humans Male Mutation Pedigree Radius Syndactyly Synostosis Toes Ulna Young Adult
spellingShingle	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 syndactyly synostosis toe ulna Adolescent Adult Consanguinity Female Fingers Homozygote Humans Male Mutation Pedigree Radius Syndactyly Synostosis Toes Ulna Young Adult Hettiaracchchi, D Bonnard, C Jayawardana, S.M.A Ng, A.Y.J Tohari, S Venkatesh, B Reversade, B Singaraja, R Dissanayake, V.H.W Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
description	10.1186/s12881-018-0646-1
author2	PAEDIATRICS
author_facet	PAEDIATRICS Hettiaracchchi, D Bonnard, C Jayawardana, S.M.A Ng, A.Y.J Tohari, S Venkatesh, B Reversade, B Singaraja, R Dissanayake, V.H.W
format	Article
author	Hettiaracchchi, D Bonnard, C Jayawardana, S.M.A Ng, A.Y.J Tohari, S Venkatesh, B Reversade, B Singaraja, R Dissanayake, V.H.W
author_sort	Hettiaracchchi, D
title	Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
title_short	Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
title_full	Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
title_fullStr	Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
title_full_unstemmed	Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
title_sort	cenani-lenz syndactyly syndrome - a case report of a family with isolated syndactyly
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/181189
_version_	1800914626558296064

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

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