PMC Articles for MedGen (Select 82795) - PMC

Select item 63735081.

A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing

İlker Karacan, Reyhan Diz Küçükkaya, Fatma Nur Karakuş, Seyhun Solakoğlu, Aslıhan Tolun, Veysel Sabri Hançer, Eda Tahir Turanlı

Turk J Haematol. 2019 Mar; 36(1): 29–36. Published online 2019 Feb 7. doi: 10.4274/tjh.galenos.2018.2018.0325

PMCID:: PMC6373508

Abstract Article PDF–2.3M

Select item 53726482.

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava

Int J Mol Sci. 2017 Mar; 18(3): 635. Published online 2017 Mar 15. doi: 10.3390/ijms18030635

PMCID:: PMC5372648

Abstract Article PDF–1.1M

Select item 52946683.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Y. Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, G. Christoph Korenke, Brian H.Y. Chung, Christopher C.Y. Mak, Ingrid Hausser, Uwe Kornak, Björn Fischer-Zirnsak, Tim M. Strom, Thomas Meitinger, Yasemin Alanay, Gulen E. Utine, Peter K.C. Leung, Siavash Ghaderi-Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B. Haack, Fransiska Malfait, Eva Morava, Bert Callewaert, Ron A. Wevers

Am J Hum Genet. 2017 Feb 2; 100(2): 216–227. Published online 2017 Jan 5. doi: 10.1016/j.ajhg.2016.12.010

Correction in:: Am J Hum Genet. 2020 Aug 6; 107(2): 374.

PMCID:: PMC5294668

Abstract Article PDF–2.6M

Select item 31377804.

Metabolic cutis laxa syndromes

Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A. Wevers, Eva Morava

J Inherit Metab Dis. 2011; 34(4): 907–916. Published online 2011 Mar 23. doi: 10.1007/s10545-011-9305-9

PMCID:: PMC3137780

Abstract Article PDF–279K

Select item 10502685.

Congenital cutis laxa with retardation of growth and development.

M A Patton, J Tolmie, P Ruthnum, S Bamforth, M Baraitser, M Pembrey

J Med Genet. 1987 Sep; 24(9): 556–561. doi: 10.1136/jmg.24.9.556

PMCID:: PMC1050268

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