Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

(2019) Muhammad Umair et al.   Molecular Genetics & Genomic Medicine

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation

(2018) M. Umair et al.   CLINICAL GENETICS

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

(2017) Muhammad Umair et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Advances in the molecular genetics of non-syndromic polydactyly

(2015) Hao Deng et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

(2014) Michael Volodarsky et al.   BMC Medical Genetics

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients

(2014) Zhigang Wang et al.   CLINICA CHIMICA ACTA

New insights into genotype–phenotype correlation for GLI3 mutations

(2014) Florence Démurger et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Polydactyly: phenotypes, genetics and classification

(2013) S. Malik   CLINICAL GENETICS

A novel frameshift mutation of theGLI3gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet

(2012) MM Al-Qattan   CLINICAL GENETICS

Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations

(2012) Aleksander Jamsheer et al.   JOURNAL OF APPLIED GENETICS

Gli Proteins in Development and Disease

(2011) Chi-chung Hui et al.   Annual Review of Cell and Developmental Biology

A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family

(2011) Feng Cheng et al.   CLINICA CHIMICA ACTA

Canine Polydactyl Mutations With Heterogeneous Origin in the Conserved Intronic Sequence of LMBR1

(2008) K. Park et al.   GENETICS