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Items: 4

Select item 65515651.

Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa

Thomas F. Mauger, Chantelle L. Mundy, Tyler D. Oostra, Pratik J. Patel

Am J Ophthalmol Case Rep. 2019 Sep; 15: 100477. Published online 2019 May 30. doi: 10.1016/j.ajoc.2019.100477

PMCID:: PMC6551565

Abstract Article PDF–1.1M

Select item 61033462.

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

Pascaline Letard, Dorien Schepers, Juliette Albuisson, Patrick Bruneval, Emmanuel Spaggiari, Gerarda Van de Beek, Suonavy Khung-Savatovsky, Nadia Belarbi, Yline Capri, Anne-Lise Delezoide, Bart Loeys, Fabien Guimiot

Mol Syndromol. 2018 Jul; 9(4): 190–196. Published online 2018 Jun 8. doi: 10.1159/000489838

PMCID:: PMC6103346

Abstract Article PDF–1.2M

Select item 54153353.

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries

Carmen M. Halabi, Thomas J. Broekelmann, Michelle Lin, Vivian S. Lee, Mon-Li Chu, Robert P. Mecham

Sci Adv. 2017 May; 3(5): e1602532. Published online 2017 May 3. doi: 10.1126/sciadv.1602532

PMCID:: PMC5415335

Abstract Article PDF–9.6M

Select item 45718724.

Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities

Olga Igoucheva, Vitali Alexeev, Carmen M. Halabi, Sheila M. Adams, Ivan Stoilov, Takako Sasaki, Machiko Arita, Adele Donahue, Robert P. Mecham, David E. Birk, Mon-Li Chu

J Biol Chem. 2015 Aug 28; 290(35): 21443–21459. Published online 2015 Jul 15. doi: 10.1074/jbc.M115.640425