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Clin Dysmorphol. 1999 Jan;8(1):15-8.

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

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1
Department of Human Genetics, Newcastle upon Tyne, UK. mdakh@cc.newcastle.edu.au

Abstract

We report on a sib pair who manifest a pattern of anomalies which appears to be unique and for which we 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.

PMID:
10327246
[Indexed for MEDLINE]
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