Anita Thorn

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Bardet-Biedl syndrome (BBS) is a heterogeneous disease; to date seven loci have been mapped and five identified (BBS1, BBS2, BBS4, BBS6, and BBS7). Inheritance in some families is complex with multiallelic participation making linkage analysis difficult. Previous mutation screens have been carried out by direct sequencing but with an increasing number of(More)
Spontaneous life threatening haemopneumothorax is an unusual but treatable cause of unexpected circulatory collapse in young patients. Two case histories are presented to illustrate the management of this condition. Diagnosis and initial management depends on early recognition of the clinical pattern by accident and emergency (A&E) staff and/or hospital(More)
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