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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: MEDICINE
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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Internet

https://scholarbank.nus.edu.sg/handle/10635/181189

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