A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents were heterozygous for a novel missense variant, p.(Pro133Leu), in the SLC35D1 gene en...

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Detalles Bibliográficos
Autores principales: Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard C, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927460/
https://www.ncbi.nlm.nih.gov/pubmed/31423530
http://dx.doi.org/10.1093/hmg/ddz200

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927460/
https://www.ncbi.nlm.nih.gov/pubmed/31423530
http://dx.doi.org/10.1093/hmg/ddz200

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