Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

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作者： Zha, Congyao ^[1] ; Farah, Carole A. ^[2] ; Holt, Richard J. ^[3] ; Ceroni, Fabiola ^[4] ; Al-Abdi, Lama ^[5] ; Thuriot, Fanny ^[6] ; Khan, Arif O. ; Helaby, Rana ; Levesque, Sebastien ; Alkuraya, Fowzan S. ; Kraus, Alison ; Ragge, Nicola K. ; Sossin, Wayne S.

作者单位： Oxford Brookes Univ, Fac Hlth & Life Sci, Dept Biol & Med Sci, Oxford OX3 0BP, England ^[1] Leeds Teaching Hosp NHS Trust, Leeds Gen Infirm, Leeds LS1 3EX, W Yorkshire, England ^[2] Univ Sherbrooke, Fac Med & Hlth Sci, Dept Pediat, Sherbrooke, PQ J1H 5N4, Canada ^[3] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11564, Saudi Arabia ^[4] King Saud Univ, Coll Sci, Dept Zool, Riyadh 11564, Saudi Arabia ^[5] McGill Univ, Montreal Neurol Inst, Dept Neurol & Neurosurg, Montreal, PQ H3A 2B4, Canada ^[6]

发布时间 2021-04-26

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Human Molecular Genetics

2020年29卷18期

3054-3063页

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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

Human Molecular Genetics

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Human Molecular Genetics

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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

Human Molecular Genetics

相似文献

Human Molecular Genetics

相关期刊

检索历史清除