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Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome
George A. Tanteles
, Nayia Nicolaou
, Andreas Syrimis
, Rafaella Metaxa
, Michael Nicolaou
, Violetta Christophidou-Anastasiadou
, Nicos Skordis
Medical School
Cyprus Institute for Neurology and Genetics
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Immunology and Microbiology
Autosomal Dominant Inheritance
100%
Teeth
100%
Limb
100%
Apocrine Gland
100%
Exon
100%
Haploinsufficiency
100%
Dideoxynucleotide Sequencing
100%
Medicine and Dentistry
Prematurity
100%
Exon
100%
Limb
100%
Autosomal Dominant Disorder
100%
Apocrine Gland
100%
Sanger Sequencing
100%
Haploinsufficiency
100%
Keyphrases
Cypriot
100%
TBX3
100%
Ulnar-mammary Syndrome
100%
Phenotypic Expression
40%
Sanger Sequencing
20%
Premature Termination
20%
Tooth Development
20%
Exon 6
20%
Genital Development
20%
Autosomal Dominant Disorder
20%
Apocrine Gland
20%
TBX3 Gene
20%
Ethnic Diversity
20%
Hair Development
20%
Classical Features
20%
Mutational Heterogeneity
20%
Gland Development
20%
Haploinsufficiency
20%
Biochemistry, Genetics and Molecular Biology
TBX3
100%
Autosomal Dominant Inheritance
20%
Exon
20%
Haploinsufficiency
20%
Dideoxynucleotide Sequencing
20%