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...
Principais autores: | , , , , , , , |
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Outros Autores: | |
Formato: | Journal Article |
Idioma: | English |
Publicado em: |
2019
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Assuntos: | |
Acesso em linha: | https://hdl.handle.net/10356/104716 http://hdl.handle.net/10220/48628 |