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Alicia F. Juriaans

Southampton Hospital

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AUG 11, 2026 · JOURNAL ARTICLE

Temple syndrome – an under-recognised multi-system growth disorder: large cohort analysis and proposed scoring system

The Journal of Clinical Endocrinology & Metabolism

Large descriptive cohort establishing clinical phenotype and proposing a novel diagnostic scoring system, but lacking a control group, prospective validation of the score, or powered comparison of outcomes.

PreliminaryPrenatal Screening and Diagnostics Deborah J G Mackay Genetic Syndromes and Imprinting

Reported

Maternal uniparental disomy52%

Hypomethylation41%

Deletion6%

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