[The campomelic syndrome]

scientific article published on 01 May 1971

[The campomelic syndrome] is …
instance of (P31):
scholarly articleQ13442814

External links are
P698PubMed publication ID5555980

P50authorJohn Marius OpitzQ99194
P2093author name stringLowry RB
Schimke RN
Maroteaux P
Kucera J
Spranger J
Kagan SM
P433issue25
P407language of work or nameFrenchQ150
P304page(s)1157-1162
P577publication date1971-05-01
P1433published inLa Presse médicaleQ26853799
P1476title[The campomelic syndrome]
P478volume79

Reverse relations

cites work (P2860)
Q34670727A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene
Q34451855A case of campomelic dysplasia without sex reversal
Q24517890A clinical and genetic study of campomelic dysplasia
Q52563038A novel association of campomelic dysplasia with hydrocephalus due to an unbalanced chromosomal translocation upstream of SOX9.
Q70666179Absence of H-Y antigen in an XY female with campomelic dysplasia
Q69759826Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias
Q28595827Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis
Q24633585Campomelic dysplasia
Q70680724Campomelic dysplasia--an underdiagnosed condition?
Q44661326Campomelic syndrome: experimental models and pathomechanism
Q72788802Case report 230: camptomelic syndrome
Q34476764Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
Q70354128Compositional analysis of collagen from patients with diverse forms of osteogenesis imperfecta
Q40360079Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases
Q52277764Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.
Q36001058Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia
Q36271527Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.
Q36093146Morphologic studies in the skeletal dysplasias
Q39236186Oto-palato-digital syndrome type II. Report of two related cases
Q39804165Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories
Q24540356SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex
Q36741149SOX9 specifies the pyloric sphincter epithelium through mesenchymal-epithelial signals.
Q70666176Sex-reversed XY females with campomelic dysplasia are H-Y negative
Q44508587Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan
Q34810766Sox9 function in craniofacial development and disease
Q44459064Syndromes of congenital bowing of the long bones

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