rMEDPathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple
doi:10.1002/ajmg.1320170220BorisRegionalG.RegionalKousseffRegionalPatRegionalNicholsRegionalWileyAmerican Journal of Medical GeneticsKouseff BG , Nichols P . 1974 . Autosomal recessive spondylometaepiphyseal dysplasia . Am J Med Genet 17 : 547 – 548 ....
606718 SLC26A2 0.004715 226900 Epiphyseal dysplasia, multiple, 4 600972 Achondrogenesis Ib 236200 CBS 0.004676 236200 Homocystinuria, B6 responsive and nonresponsive 600073 LRP2 0.004676 222448 Donnai–Barrow syndrome 252800 IDUA 0.004675 607014 Mucopolysaccharidosis, Ih (Hurler S) 607015 Mucopolysaccha...
Is multiple sclerosis autosomal dominant or recessive? Is ALS an autosomal dominant gene? Is autosomal dominant a single gene defect? Is multiple epiphyseal dysplasia autosomal dominant? Are autoimmune diseases autosomal dominant? Is oculocutaneous albinism autosomal dominant or recessive? Is an autosomal...
Spondyloepiphyseal dysplasia Omani type: A new recessive type of SED with progressive spinal involvement Am. J. Med. Genet. A, 126 (2004), pp. 413-419 View in ScopusGoogle Scholar 4 L.J. Larsen, E.R. Schottstaedt, F.C. Bost Multiple congenital dislocations associated with characteristic ...
Define recessiveness. recessiveness synonyms, recessiveness pronunciation, recessiveness translation, English dictionary definition of recessiveness. adj. 1. Tending to go backward or recede. 2. a. Genetics Of, relating to, or designating an allele that
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sistersABCA4rMEDSLC26A2STGD1Background The rapid spread of genome﹚ide nextゞeneration sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a ...
See alsoLiskov substitution principle,multiple inheritance. This article is provided by FOLDOC - Free Online Dictionary of Computing (foldoc.org) inheritance In object technology, the ability of one class of objects to inherit properties from a higher class. ...
SLC26A2 mutations also result in other skeletal dysplasias, including the milder recessive multiple epiphyseal dysplasia (rMED). DTD is overrepresented in Finland and we speculated that this may have influenced the prevalence and spectrum of SLC26A2-related skeletal conditions also in Sweden. We ...
Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST muta- tion. J Med Genet 1999; 36: 621-4....