HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

• Shiyu Luo,
• Bilal Alwattar,
• Qifei Li,
• Kiran Bora,
• Alexandra K. Blomfield,
• Jasmine Lin,
• Anne Fulton,
• Jing Chen,
• Pankaj B. Agrawal

Affiliations

Shiyu Luo

Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL 33136, USA

Bilal Alwattar

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA

Qifei Li

Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL 33136, USA

Kiran Bora

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA

Alexandra K. Blomfield

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA

Jasmine Lin

Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA

Anne Fulton

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA

Jing Chen

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA

Pankaj B. Agrawal

Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL 33136, USA