A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings

(2015) Egle Preiksaitiene et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

(2015) Eduardo P. Mattos et al.   GENETICS AND MOLECULAR BIOLOGY

A mutation creating an out-of-frame alternative translation initiation site in theGRHPR5′UTR causing primary hyperoxaluria type II

(2014) Y. Fu et al.   CLINICAL GENETICS

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia

(2014) Lauren C. Walters-Sen et al.   European Journal of Medical Genetics

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

(2013) Ana Carolina S Fonseca et al.   BMC Medical Genetics

Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation

(2013) Hariharan Gopakumar et al.   INDIAN JOURNAL OF PEDIATRICS

Gene Expression Regulation by Upstream Open Reading Frames and Human Disease

(2013) Cristina Barbosa et al.   PLoS Genetics

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

(2012) Oliver Semler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia

(2010) Alex Staffler et al.   HUMAN MUTATION

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

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