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January 1, 2001Journal of Medical GeneticsOpen Access

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

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Parisi et al. (2001) studied this question.

synapsesocial.com/papers/6a72840522b3175134db7734 https://doi.org/10.1136/jmg.38.1.52

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Benign Familial Macrocephaly: Report of a Family and Review of the LiteratureReview · 1976 · 54 citations
2Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generationsOriginal Research · 1993 · 48 citations
3The Bannayan Syndrome: An Autosomal Dominant Disorder Consisting of Macrocephaly, Lipomas, Hemangiomas, and Risk for Intracranial TumorsOriginal Research · 1982 · 70 citations
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5PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden SyndromeCohort Study · 1999 · 611 citations