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Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis

Lookup NU author(s): Professor Sir John BurnORCiD, Dr Simon Court, Dr Trevor Jackson


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We report on a sib pair who manifest a pattern of anomalies which appears to be unique and for which me are unable to provide a cytogenetic or molecular genetic explanation. While a number of their physical features are distinct, their overall appearance and pattern of neurological impairment suggest they suffer from the same genetic disorder. Clin Dysmorphol 8: 15-18 (C) 1999 Lippincott Williams & Wilkins.

Publication metadata

Author(s): Ryan A, Burn J, Court S, Jackson T, Smith JC, Barwick D

Publication type: Article

Publication status: Published

Journal: Clinical Dysmorphology

Year: 1999

Volume: 8

Issue: 1

Pages: 15-18

Print publication date: 01/01/1999

ISSN (print): 0962-8827

ISSN (electronic): 1473-5717

Publisher: Lippincott Williams & Wilkins


DOI: 10.1097/00019605-199901000-00004


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