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Article

Acampomelic campomelic syndrome.

American journal of medical genetics - 1 Dec 2001

Moog U, Jansen N J, Scherer G, Schrander-Stumpel C T

Abstract excerpt

Campomelic syndrome (or campomelic dysostosis, CD; MIM *114290) is an autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of long bones, especially of the lower limbs. Additional radiological and clinical findings are 11 pairs of ribs and a bell-shaped thorax, hypoplastic scapulae, narrow iliac wings, non-mineralized thoracic pedicles, clubbed feet, Robin sequence, typical...

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Source

Identifiers

PMID: 11754051

Genes

ACD
SOX9
SRY

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Acampomelic campomelic syndrome.PMID 11754051Read ↗

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.Semantic proximity Read ↗

Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex PhenotypesSemantic proximity Read ↗

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.Semantic proximity Read ↗

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.Semantic proximity Read ↗

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.Semantic proximity Read ↗

Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.Semantic proximity Read ↗

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.Semantic proximity Read ↗

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.Semantic proximity Read ↗

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.Semantic proximity Read ↗

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasiaSemantic proximity Read ↗

Genetic study of SOX9 in a case of campomelic dysplasia.Semantic proximity Read ↗

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.Semantic proximity Read ↗

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