Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females

Studies ofTBX4and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot

(2012) W. Lu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus

(2012) T. Montavon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

(2011) Bitten Schönewolf-Greulich et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pitx1 is necessary for normal initiation of hindlimb outgrowth through regulation of Tbx4 expression and shapes hindlimb morphologies via targeted growth control

(2011) V. Duboc et al.   DEVELOPMENT

Identity and fate of Tbx4-expressing cells reveal developmental cell fate decisions in the allantois, limb, and external genitalia

(2011) L.A. Naiche et al.   DEVELOPMENTAL DYNAMICS

Genetics of clubfoot

(2011) Matthew B. Dobbs et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B

Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

(2010) David M. Alvarado et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

(2010) Blake C. Ballif et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TBX2 gene duplication associated with complex heart defect and skeletal malformations

(2010) Francesca Clementina Radio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd et al.   HUMAN MOLECULAR GENETICS

Tbx4/5 gene duplication and the origin of vertebrate paired appendages

(2009) C. Minguillon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dual hindlimb control elements in the Tbx4 gene and region-specific control of bone size in vertebrate limbs

(2008) D. B. Menke et al.   DEVELOPMENT

Polygenic Threshold Model with Sex Dimorphism in Clubfoot Inheritance: The Carter Effect

(2008) Lisa M Kruse et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME