A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family

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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Detalhes bibliográficos
Principais autores: Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima
Outros Autores: Lee Kong Chian School of Medicine (LKCMedicine)
Formato: Journal Article
Idioma:English
Publicado em: 2019
Assuntos:
Spondyloocular Syndrome (SOS)
Whole-Exome-Sequencing (WES)
DRNTU::Science::Medicine
Acesso em linha:https://hdl.handle.net/10356/104716
http://hdl.handle.net/10220/48628

Internet

https://hdl.handle.net/10356/104716
http://hdl.handle.net/10220/48628

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