{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T16:37:58Z","timestamp":1769272678003,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,17]],"date-time":"2018-01-17T00:00:00Z","timestamp":1516147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001265","name":"Academy of Medical Royal Colleges","doi-asserted-by":"publisher","award":["MR\/M004597\/1"],"award-info":[{"award-number":["MR\/M004597\/1"]}],"id":[{"id":"10.13039\/501100001265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>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 associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. This disorder called Lenz\u2013Majewski syndrome (LMS) is associated with gain of function mutations in <jats:italic>PTDSS1<\/jats:italic>, encoding an enzyme involved in phospholipid biosynthesis. This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between <jats:italic>PTDSS1<\/jats:italic> and extra cellular matrix assembly.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38604","type":"journal-article","created":{"date-parts":[[2018,1,17]],"date-time":"2018-01-17T13:58:46Z","timestamp":1516197526000},"page":"668-675","source":"Crossref","is-referenced-by-count":17,"title":["Cutis laxa and excessive bone growth due to de novo mutations in <i>PTDSS1<\/i>"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5244-5325","authenticated-orcid":false,"given":"Juliette","family":"Piard","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9 Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Lespinasse","sequence":"additional","affiliation":[{"name":"Service de Cytog\u00e9n\u00e9tique Centre Hospitalier de Chamb\u00e9ry\u2010H\u00f4tel 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