Article
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
American journal of medical genetics. Part A - 1 Mar 2018
Piard Juliette, Lespinasse James, Vlckova Marketa, Mensah Martin A, Iurian Sorin, Simandlova Martina, Malikova Marcela, Bartsch Oliver, Rossi Massimiliano, Lenoir Marion, Nugues Frédérique, Mundlos Stefan, Kornak Uwe, Stanier Philip, Sousa Sérgio B, Van Maldergem Lionel
Abstract excerpt
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype...
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