PMC Articles for MedGen (Select 82794) - PMC

Select item 47637011.

A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited

Abhijit Dutta, Sudip Kumar Ghosh, Arghyaprasun Ghosh, Sutirtha Roy

Indian J Dermatol. 2016 Jan-Feb; 61(1): 81–84. doi: 10.4103/0019-5154.174031

PMCID:: PMC4763701

Select item 10513502.

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

A Jukkola, S Kauppila, L Risteli, K Vuopala, J Risteli, J Leisti, L Pajunen

J Med Genet. 1998 Jun; 35(6): 513–518. doi: 10.1136/jmg.35.6.513

PMCID:: PMC1051350

Summary Page Browse PDF–2.0M

Select item 45649903.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

Am J Hum Genet. 2015 Sep 3; 97(3): 483–492. Published online 2015 Aug 27. doi: 10.1016/j.ajhg.2015.08.001

PMCID:: PMC4564990

Article PDF–2.1M

Select item 78768034.

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama

BMC Neurol. 2021; 21: 64. Published online 2021 Feb 11. doi: 10.1186/s12883-021-02087-x

PMCID:: PMC7876803

Article PDF–945K

Select item 98926065.

De Barsy Syndrome: A Case Report of a Rare Genetic Disorder

Kankipati Srimeghana, Saikrishna Dodda, Anagha SK, Tamara Tango, Aishwar Dixit, Sweta Sahu

Cureus. 2023 Jan; 15(1): e33280. Published online 2023 Jan 2. doi: 10.7759/cureus.33280

PMCID:: PMC9892606

Article PDF–744K

Select item 41132726.

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Mark T Handley, André Mégarbané, Alison M Meynert, Stephen Brown, Elisabeth Freyer, Martin S Taylor, Ian J Jackson, Irene A Aligianis

Mol Genet Genomic Med. 2014 Jul; 2(4): 319–325. Published online 2014 Mar 11. doi: 10.1002/mgg3.70

PMCID:: PMC4113272

Article PDF–824K

Select item 97482977.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. Adamo, Aude Beyens, Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore Pottie, Laura Muiño-Mosquera, Elif Yilmaz Gulec, Alper Gezdirici, Paola Braghetta, Paolo Bonaldo, Raimund Wagener, Mats Paulsson, Helen Bornaun, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Walter P. Devine, Balram Gangaram, Allison Tam, Meena Balasubramanian, Sian Ellard, Sandra Moore, Sofie Symoens, Joseph Shen, Stacey Cole, Ulrike Schwarze, Kathryn W. Holmes, Susan J. Hayflick, Wojciech Wiszniewski, Sheela Nampoothiri, Elaine C. Davis, Lynn Y. Sakai, Gerhard Sengle, Bert Callewaert

Am J Hum Genet. 2022 Dec 1; 109(12): 2230–2252. Published online 2022 Nov 8. doi: 10.1016/j.ajhg.2022.10.010

PMCID:: PMC9748297

Article PDF–8.5M

Select item 85307158.

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah, Louise Denvir, Katja Dumic, Artur Bossowski, Talat Mushtaq, Rade Vukovic, Mohamed Didi, Nick Shaw, Louise A Metherell, Martin O Savage, Helen L Storr

J Clin Endocrinol Metab. 2021 Nov; 106(11): e4716–e4733. Published online 2021 Jun 16. doi: 10.1210/clinem/dgab437

PMCID:: PMC8530715

Article

Select item 82448989.

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

Lore Pottie, Wouter Van Gool, Michiel Vanhooydonck, Franz-Georg Hanisch, Geert Goeminne, Andreja Rajkovic, Paul Coucke, Patrick Sips, Bert Callewaert

PLoS Genet. 2021 Jun; 17(6): e1009603. Published online 2021 Jun 18. doi: 10.1371/journal.pgen.1009603

PMCID:: PMC8244898

Article PDF–3.8M

Select item 820638210.

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie, Christin S. Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Phil L. Salmon, Riet De Rycke, Alper Gezdirici, Elif Yilmaz Gulec, Naz Khan, Jill E. Urquhart, William G. Newman, Kay Metcalfe, Stephanie Efthymiou, Reza Maroofian, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Ikhlass Altweijri, Monerah Alsaleh, Sawsan Mohamed Abdullah, Mohammad Al-Owain, Mais Hashem, Henry Houlden, Fowzan S. Alkuraya, Patrick Sips, Gerhard Sengle, Bert Callewaert

Am J Hum Genet. 2021 Jun 3; 108(6): 1095–1114. Published online 2021 May 14. doi: 10.1016/j.ajhg.2021.04.016

Correction in:: Am J Hum Genet. 2021 Dec 2; 108(12): 2386–2388.

PMCID:: PMC8206382

Article PDF–5.3M

Select item 550066811.

Amino acid synthesis deficiencies

T. J. de Koning

J Inherit Metab Dis. 2017; 40(4): 609–620. Published online 2017 Jun 26. doi: 10.1007/s10545-017-0063-1

PMCID:: PMC5500668

Article PDF–475K

Select item 272523112.

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs-Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk, Efrat Birk, Jürgen Kohlhase, Uta Matysiak-Scholze, Idit Maya, Carlos Knopf, Anette Peffekoven, Hans-Christian Hennies, Reuven Bergman, Mia Horowitz, Akemi Ishida-Yamamoto, Eli Sprecher

Am J Hum Genet. 2009 Aug 14; 85(2): 254–263. doi: 10.1016/j.ajhg.2009.07.001

PMCID:: PMC2725231

Article PDF–1.2M

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