Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Copy-Number Variations, Noncoding Sequences, and Human Phenotypes

(2011) Eva Klopocki et al.   Annual Review of Genomics and Human Genetics

Mechanisms of digit formation: Human malformation syndromes tell the story

(2011) Sigmar Stricker et al.   DEVELOPMENTAL DYNAMICS

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice

(2011) D. M. Alvarado et al.   HUMAN MOLECULAR GENETICS

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

(2009) Ingo Kurth et al.   NATURE GENETICS

Adaptive Evolution of Pelvic Reduction in Sticklebacks by Recurrent Deletion of a Pitx1 Enhancer

(2009) Y. F. Chan et al.   SCIENCE

Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation

(2008) Christina A. Gurnett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Laurin-Sandrow syndrome: Review and redefinition

(2008) Adrián Mariño-Enríquez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A