Complex genomic rearrangement in theSOX95′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

(2011) Stefan White et al.   PLoS One

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

(2010) S. Ledig et al.   HUMAN REPRODUCTION

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream ofSOX9

(2009) Claire Lecointre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation analysis ofSOX9and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

(2009) Yuka Wada et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Long-range regulation at the SOX9 locus in development and disease

(2009) C T Gordon et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Sabina Benko et al.   NATURE GENETICS

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

(2008) Ryohei Sekido et al.   NATURE