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humans (32) 32
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The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 216 - 227
Journal Article
International Journal of Molecular Sciences, ISSN 1422-0067, 2017, Volume 18, Issue 3, pp. 635 - 635
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 352 - 361
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 04/2019, Volume 28, Issue 2, pp. 63 - 65
Journal Article
Indian Journal of Paediatric Dermatology, ISSN 2319-7250, 2018, Volume 19, Issue 3, pp. 274 - 276
Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, sagging, and redundant skin. Both inherited and acquired forms are known. A... 
Case studies | Cutis laxa | Children | Identification and classification | Pediatric dermatology | Diseases | cutis laxa | genodermatoses | Autosomal recessive cutis laxa
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 04/2015, Volume 8, Issue 4, pp. 403 - 415
Journal Article
Indian dermatology online journal, ISSN 2229-5178, 09/2017, Volume 8, Issue 5, pp. 352 - 354
Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism,... 
dysmorphism | Autosomal recessive cutis laxa | novel mutation | Case Report
Journal Article
Journal Article
Iranian Journal of Pediatrics, ISSN 2008-2142, 12/2016, Volume 26, Issue 6
We report on a novel mutation in a two-year-old child with autosomal recessive cutis laxa with severe generalized laxity of the skin, prematurely aged... 
Right ventricular non-compaction | Novel FBLN5 mutation | Autosomal recessive Cutis Laxa | Novel FBLN5 Mutation | PEDIATRICS | Autosomal Recessive Cutis Laxa | Right Ventricular Non-Compaction
Journal Article
Acta Pædiatrica, ISSN 0803-5253, 03/2009, Volume 98, Issue 3, pp. 490 - 494
Journal Article
Molecular Syndromology, ISSN 1661-8769, 07/2018, Volume 9, Issue 4, pp. 190 - 196
EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and... 
Novel Insights from Clinical Practice | Arterial tortuosity | EFEMP2 | Prenatal diagnosis | Autopsy | Autosomal recessive cutis laxa type 1B | Fetus | Fibulin-4 | Bone fractures | Elastic tissue | FBLN4
Journal Article