Phenotypic expansion ofTBX4mutations to include acinar dysplasia of the lungs

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapidly Fatal “Congenital Lung Dysplasia”: A Case Report and Review of the Literature

(2014) Massimiliano Don et al.   Fetal and Pediatric Pathology

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

(2013) Jess F. Peterson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TBX4mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

(2013) Wilhelmina S Kerstjens-Frederikse et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Tbx2 Controls Lung Growth by Direct Repression of the Cell Cycle Inhibitor Genes Cdkn1a and Cdkn1b

(2013) Timo H-W. Lüdtke et al.   PLoS Genetics

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Acinar dysplasia of the lungs: variation in the extent of involvement and clinical features

(2012) C.W. Chow et al.   PATHOLOGY

Multiple Roles and Interactions of Tbx4 and Tbx5 in Development of the Respiratory System

(2012) Ripla Arora et al.   PLoS 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

An essential interaction between T-box proteins and histone-modifying enzymes

(2010) Sara A. Miller et al.   Epigenetics

Wnt2/2b and β-Catenin Signaling Are Necessary and Sufficient to Specify Lung Progenitors in the Foregut

(2009) Ashley M. Goss et al.   DEVELOPMENTAL CELL