A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene

scientific article

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.5152/TPA.2014.1187
P932PMC publication ID4462283
P698PubMed publication ID26078652
P5875ResearchGate publication ID278732089

P50authorZafer YukselQ85202089
P2093author name stringGerd Scherer
Kadri Karaer
Esin Yalınbaş
P2860cites workA clinical and genetic study of campomelic dysplasiaQ24517890
Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone geneQ24522795
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activationQ28185681
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceQ28235961
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related geneQ28242642
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlationsQ28301782
Constitutional osteochondrodysplasias identifiable at birth. A short review on the state of the art in radiodiagnosis in the late 20th century.Q33654507
The birth prevalence rates for the skeletal dysplasiasQ33673345
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.Q40150521
The treatment of progressive kyphoscoliosis in camptomelic dysplasiaQ41513800
Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in arms and legs; a congenital syndrome of mechanical origin.Q52370403
[The campomelic syndrome]Q71786081
P433issue2
P921main subjectcampomelic dysplasiaQ1031536
P304page(s)154-156
P577publication date2014-06-01
P1433published inTürk pediatri arsivi Turkish Pediatrics ArchiveQ26842444
P1476titleA case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene
P478volume49

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