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Publications by SMY Wong

A Rare Cause of Primary Hypoparathyroidism Due to a Novel Mutation in the GATA3 Gene – The Barakat Syndrome

International Journal of Pediatric Endocrinology

English

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A Neonatal Case of HDR Syndrome and a Vascular Ring With a Novel GATA3 Mutation

Human Genome Variation

Molecular Biology

English

Reversible Splenial Lesion Syndrome (RESLES) Due to Acute Intermittent Porphyria With a Novel Mutation in the Hydroxymethylbilane Synthase Gene

Orphanet Journal of Rare Diseases

English

A Rare and Reversible Case of Heart Failure—Hypocalcemia Due to Hypoparathyroidism

Clinical Case Reports

English

Liddle’s Syndrome in an African Male Due to a Novel Frameshift Mutation in the Beta-Subunit of the Epithelial Sodium Channel Gene

Cardiovascular Journal of Africa

Cardiovascular Medicine

English

Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene

Child Neurology

English

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

English

Primary Pigmented Nodular Adrenocortical Disease: A Rare Cause of Cushing's Syndrome

Endocrine Abstracts

English

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Endocrinology & Metabolic Syndrome

English

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia With Novel Mutation

Pediatric Gastroenterology, Hepatology and Nutrition

Gastroenterology

English