Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis

Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer. It is caused by deleterious mutations in the fumarate hydratase (FH) gene. In many patients, skin leiomyomas have been reported to develop according to a segmental type 1 or type 2 distribution. We report a patient showing multiple leiomyomas distributed according to a segmental type 2 distribution and covering several areas exclusively on the left side of his body.

Trends in Phonetics and Phonology

This volume was inspired by the 9th edition of the Phonetik and Phonologie conference, held in Zürich in October 2013. It includes state of the art research on phonetics and phonology in various languages and from interdisciplinary contributors. The volume is structured into the following eight sections: segmentals, suprasegmentals, articulation in spoken and sign language, perception, phonology, crowdsourcing phonetic data, second language speech, and arts (with inevitable overlap between these areas).