Congenital Heart Defects in Patients with Deletions Upstream ofSOX9

Familial Microdeletion of 17q24.3 Upstream ofSOX9Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

(2013) Ina E. Amarillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Delineating the 17q24.2–q24.3 microdeletion syndrome phenotype

(2012) Jodi M. Lestner et al.   European Journal of Medical Genetics

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer

(2012) Malou van den Boogaard et al.   JOURNAL OF CLINICAL INVESTIGATION

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

(2011) Sarah Vergult et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome

(2011) M. Paulais et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Case of Campomelic Dysplasia without Sex Reversal

(2010) Hyoung-Young Kim et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

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

(2009) Ingo Kurth et al.   NATURE GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS