Ophthalmic manifestations associated with RARB mutations

Clin Dysmorphol. 2019 Jan;28(1):46-49. doi: 10.1097/MCD.0000000000000246.

Authors

Nutsuchar Wangtiraumnuay^{1

2}, Sarina Kopinsky³, Prashanth Iyer⁴, Jenina Capasso¹, Rick Whitehead⁵, Adele Schneider^{3

6}, Alex V Levin^{1

6}

Affiliations

¹ Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital.
² Department of Ophthalmology, Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
³ Division of Genetics, Einstein Medical Center.
⁴ Christiana Care Health System, Newark, Delaware.
⁵ Northwest Pediatric Ophthalmology, Spokane, Washington, USA.
⁶ Thomas Jefferson University, Philadelphia, Pennsylvania.

PMID: 30281527
DOI: 10.1097/MCD.0000000000000246

No abstract available

Publication types

Case Reports

MeSH terms

Child, Preschool
Endophthalmitis / genetics
Female
Humans
Microphthalmos / genetics*
Mutation / genetics
Receptors, Retinoic Acid / genetics*
Receptors, Retinoic Acid / metabolism
Receptors, Retinoic Acid / physiology*

Substances

Receptors, Retinoic Acid
retinoic acid receptor beta