A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exo...

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Detalles Bibliográficos
Autores principales: Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411848/
https://www.ncbi.nlm.nih.gov/pubmed/30891060
http://dx.doi.org/10.3389/fgene.2019.00144

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411848/
https://www.ncbi.nlm.nih.gov/pubmed/30891060
http://dx.doi.org/10.3389/fgene.2019.00144

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