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Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal fast\u2010flow capillary malformations, severe lymphatic anomalies of perinatal onset, and dysmorphic features not previously described. Sequencing studies were performed on probands and related family members, confirming the segregation of dysmorphic features in affected members of a novel heterozygous variant in <jats:italic>RASA1<\/jats:italic> (NM_002890.3:c.2366G&gt;A, p.(Arg789Gln)). In this work, we broaden the phenotypic spectrum of CM\u2010AVM type 1 and propose a new <jats:italic>RASA1<\/jats:italic> variant as likely pathogenic.<\/jats:p>","DOI":"10.1002\/ajmg.a.63711","type":"journal-article","created":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T13:30:00Z","timestamp":1719495000000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Another face of <i>RASA1<\/i>: Report of familial germline variant in <i>RASA1<\/i> with dysmorphic features"],"prefix":"10.1002","volume":"194","author":[{"given":"Esteban","family":"Hume","sequence":"first","affiliation":[{"name":"Secci\u00f3n de Gen\u00e9tica y Errores Cong\u00e9nitos del Metabolismo, Divisi\u00f3n de Pediatr\u00eda, Facultad de Medicina Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda\u2010Laura","family":"Cossio","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Vargas","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n e Innovaci\u00f3n Materno Fetal Complejo Asistencial Dr. S\u00f3tero del R\u00edo  Santiago Chile"},{"name":"Divisi\u00f3n de Obstetricia y Ginecolog\u00eda, Facultad de Medicina Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Paz","family":"Cubillos","sequence":"additional","affiliation":[{"name":"Servicio de Neonatolog\u00eda Complejo Asistencial Dr. S\u00f3tero del R\u00edo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Maccioni","sequence":"additional","affiliation":[{"name":"Servicio de Neonatolog\u00eda Complejo Asistencial Dr. S\u00f3tero del R\u00edo  Santiago Chile"},{"name":"Departamento de Neonatolog\u00eda, Divisi\u00f3n de Pediatr\u00eda, Facultad de Medicina Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Lay\u2010Son","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Gen\u00e9tica y Errores Cong\u00e9nitos del Metabolismo, Divisi\u00f3n de Pediatr\u00eda, Facultad de Medicina Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"},{"name":"Unidad de Gen\u00e9tica Complejo Asistencial Dr. S\u00f3tero del R\u00edo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsb0997-686"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.41"},{"key":"e_1_2_9_6_1","volume-title":"GeneReviews\u00ae","author":"Bayrak\u2010Toydemir P.","year":"2011"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.03.004"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1222722110"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ph16020165"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/2022.03.20.485034"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14030549"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61779"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.009"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2020-011601"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62416"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ics.2006.06.001"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.13651"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.40"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2020.03.010"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03819-2"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23929"},{"key":"e_1_2_9_24_1","doi-asserted-by":"crossref","unstructured":"Lacalm A. 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