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dc.contributor.authorKOCH, G
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorBETTECKEN, T
dc.contributor.authorWOLLNIK, B
dc.contributor.authorWIEACKER, P
dc.contributor.authorJAKUBICZKA, S
dc.date.accessioned2021-03-03T12:08:37Z
dc.date.available2021-03-03T12:08:37Z
dc.date.issued2001
dc.identifier.citationJAKUBICZKA S., BETTECKEN T., KOCH G., Tuysuz B., WOLLNIK B., WIEACKER P., "Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene", CLINICAL DYSMORPHOLOGY, cilt.10, sa.3, ss.197-201, 2001
dc.identifier.issn0962-8827
dc.identifier.otherav_2c2c11a7-1da9-4f34-a651-4139351eb84c
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/34418
dc.identifier.urihttps://doi.org/10.1097/00019605-200107000-00009
dc.description.abstractCampomelic dysplasia is a rare neonatal skeletal malformation syndrome mainly characterized by congenital boning and angulation of long bones in combination with other skeletal and estraskeletal defects. Two thirds of karyotypic males exhibit male-to-female ses reversal. Point mutations within SOX9 in 17q24-25 or rearrangements upstream to SOX9 as well as a deletion of a complete gene, causing haploinsufficiency of the gene product, have been detected in some patients. Recurrent mutations appear to be rare and most mutations detected in campomelic dysplasia are family specific. Here, we report on a Turkish patient with a 46,XY karyotype affected by campomelic dysplasia without sex reversal. Sequencing the SOX9 gene revealed a heterozygous Ala119Val mutation in exon 1, coding for the highly conserved HMG-box of the gene. This mutation is not present in the parents' lymphocyte DNAs. The same mutation was recently reported in a patient with 46,SX karyotype. Additionally, our patient is homozygous for the common polymorphism c507C-->T, while both parents are heterozygous. Clin Dysmorphol 10: 197-201 (C) 2001 Lippincott Williams & Wilkins.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectDahili Tıp Bilimleri
dc.subjectYaşam Bilimleri
dc.subjectTıbbi Genetik
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titleCampomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene
dc.typeMakale
dc.relation.journalCLINICAL DYSMORPHOLOGY
dc.contributor.department, ,
dc.identifier.volume10
dc.identifier.issue3
dc.identifier.startpage197
dc.identifier.endpage201
dc.contributor.firstauthorID9387


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