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Susan M. Huson
Human Genetics
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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...
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Chapter
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...
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Book
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Chapter
Clinical Quiz: Diagnostic and Management Pitfalls of Neurocutaneous Disease
A child age 10 years presents with two café au lait patches and two skin lumps. What is the differential diagnosis? What investigations would you do?
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Chapter
The Neurofibromatoses: Differential Diagnosis and Rare Subtypes
Accurate diagnosis of the type of neurofibromatosis is important for patient management and genetic counseling. In the majority of people with neurofibromatosis type one (NF1) and type two (NF2), the diagnosi...
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Chapter
Neurofibromatosis (NF) types 1 and 2
In contrast to the majority of other genetic cancer syndromes reviewed in this book, neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) do not result in cancer development in the majority of affected indi...
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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....
