A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree
Özer L, Aktuna S, Unsal E, Ünal M, Sahin G, Baltaci V. A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree. American Journal Of Medical Genetics Part A 2022, 188: 3078-3083. PMID: 35934917, DOI: 10.1002/ajmg.a.62939.Peer-Reviewed Original ResearchConceptsPathogenic variantsSchneckenbecken dysplasiaCommon clinical featuresNovel likely pathogenic variantFirst case reportGene pathogenic variantsLikely pathogenic variantsMild phenotypeHomozygous missense variantLethal autosomal recessive disorderAutosomal recessive disorderMild phenotypic featuresClinical featuresCase reportGenu valgumPerinatal periodLower extremitiesVertebral bodyShort statureNarrow thoraxExome sequencingMilder phenotypeRecessive disorderLong bonesMissense variants