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  1. No Access

    Article

    Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

    Leslie Biesecker and colleagues report an exome sequencing study identifying somatic activating mutations in PIK3CA as the cause of a new progressive segmental overgrowth disorder. They identify mutations in PIK3...

    Marjorie J Lindhurst, Victoria E R Parker, Felicity Payne, Julie C Sapp… in Nature Genetics (2012)

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    Management and Treatment of “Complex Neurofibromatosis 1”

    Neurofibromatosis 1 (NF1) is a common inherited tumour predisposition disease that involves the skin, bone and nervous system predominantly. The clinical manifestations are variable and affect many of the body...

    Rosalie E. Ferner, Susan M. Huson in Neurofibromatosis Type 1 (2012)

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    Article

    MASA syndrome: further clinical delineation and chromosomal localisation

    MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) is an X-linked disorder first described in 1974. Since that time, two further pedigrees have been reported with similar features....

    Robin M. Winter, Kay E. Davies, Martyn V. Bell, Susan M. Huson… in Human Genetics (1989)