case report | Q2782326 |
scholarly article | Q13442814 |
P50 | author | Zafer Yuksel | Q85202089 |
P2093 | author name string | Gerd Scherer | |
Kadri Karaer | |||
Esin Yalınbaş | |||
P2860 | cites work | A clinical and genetic study of campomelic dysplasia | Q24517890 |
Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene | Q24522795 | ||
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation | Q28185681 | ||
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence | Q28235961 | ||
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene | Q28242642 | ||
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations | Q28301782 | ||
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 dysplasias | Q33673345 | ||
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 dysplasia | Q41513800 | ||
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 | ||
P433 | issue | 2 | |
P921 | main subject | campomelic dysplasia | Q1031536 |
P304 | page(s) | 154-156 | |
P577 | publication date | 2014-06-01 | |
P1433 | published in | Türk pediatri arsivi Turkish Pediatrics Archive | Q26842444 |
P1476 | title | A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene | |
P478 | volume | 49 |
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