Identification of the fourth duplication of upstreamIHHregulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

The mechanisms of Hedgehog signalling and its roles in development and disease

(2013) James Briscoe et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A review of hedgehog signaling in cranial bone development

(2013) Angel Pan et al.   Frontiers in Physiology

A large duplication involving the IHH locus mimics acrocallosal syndrome

(2012) Memnune Yuksel-Apak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

(2010) Eva Klopocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and Molecular Evaluation ofSHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

(2010) S. Benito-Sanz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003

(2008) Sheree L. Boulet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?

(2008) Mahim Jain et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog

(2008) Christian Babbs et al.   MECHANISMS OF DEVELOPMENT