Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1994 • 1,521 citations

The campomelic syndrome: Review, report of 17 cases, and follow‐up on the currently 17‐year‐old boy first reported by Maroteaux et al in 1971

1983 • 295 citations

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

2005 • 251 citations

A clinical and genetic study of campomelic dysplasia.

1995 • 247 citations

Germ line mosaicism

1998 • 221 citations

Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region

1999 • 212 citations

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

1997 • 201 citations

In vivo reversion to normal of inherited mutations in humans

2003 • 182 citations

Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

2005 • 173 citations

Somatic gene mutation and human disease other than cancer

2003 • 110 citations

Andersen‐Tawil syndrome: Prospective cohort analysis and expansion of the phenotype

2006 • 108 citations

[The campomelic syndrome].

1971 • 99 citations

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal

1996 • 87 citations

Campomelic syndrome and deletion of SOX9

1999 • 42 citations

Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

2005 • 40 citations

A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion

2005 • 33 citations

Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter

2003 • 28 citations

Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter

2003 • 17 citations