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January 30, 2008Journal of Medical GeneticsOpen Access

BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

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Abstract

BHDS is characterised by a spectrum of mutations, and clinical heterogeneity both among and within families.

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Cite This Study

Toro et al. (2008) studied this question.

synapsesocial.com/papers/69dc1b49796be608a2b64fca https://doi.org/10.1136/jmg.2007.054304

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