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Clinical review - Autistic spectrum disorders

This article discusses common presentations, core features and behaviours that may suggest a diagnos...

Otitis media is extremely common in patients with Turner syndrome (Photograph: Science Photo Library)

Clinical review - Turner syndrome

Clinical features of Turner syndrome, comorbidities, management and early referral...

Clinical review: Down's syndrome

The aetiology of Down's syndrome, the screening process and management of comorbidities in childhood...

Patients with beta thalassaemia major will require monthly blood transfusions to avoid complications (Photograph: SPL)

Haematology - Thalassaemia

Diagnosis and treatment of thalassaemia and the role of the GP in its management, including the risk...

Acute myeloid leukaemia: clinical review

Acute myeloid leukaemia (AML) is a clonal malignant disorder characterised by the accumulation of im...

Clinical Review - Prader-Willi syndrome

Prader-Willi syndrome is a rare genetic disorder that causes characteristics such as obesity due to ...

Rare diseases: Tuberous sclerosis

Dr Harry Brown explains this rare genetic disorder...

Rare diseases - Fragile X syndrome

Fragile X syndrome is associated with autism, seizures and learning difficulties, writes Dr Harry Br...

The treatment of retinoblastoma now includes new chemotherapeutic regimens to minimise tissue damage

Retinoblastoma

There are many long-term issues faced by people who have had childhood eye cancer. By Juliette Carte...

Genetics and the GP - an ethical conundrum

Dr John Spicer and Dr Imran Rafi discuss the ethics of genetic counselling....

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