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TFAP2A mutation in a child and mother with predominantly ocular anomalies

non-classical presentation of branchio-oculo-facial syndrome

Si-Min Ng, Pamelaa; Khan, Shaziab; Lim, Jiin Yingc; Chew-Yin Goh, Jasminec; Lin, Grace Xiulinc; Wei, Hemingc; Tan, Ene Chooc,,d; Jamuar, Saumya Shekhara,,c,,d,,e

doi: 10.1097/MCD.0000000000000290
Short Case Reports

Departments of aPaediatrics

bOphthalmology, KK Women’s and Children’s Hospital

cGenetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital

dPaediatrics Academic Clinical Programme, Duke-NUS Medical School

eInstitute of Precision Medicine, Singhealth Duke-NUS Medical School, Singapore

Received 6 March 2019 Accepted 16 May 2019

Correspondence to Saumya Shekhar Jamuar, MBBS, MRCPCH, Department of Paediatrics, KK Women’s and Children’s Hospital, 100 Bukit Timah Road, Singapore 229899, Tel: +65 63941129; fax: +65 62917923; e-mail:

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