De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities

被引：2

作者：

Dutta, Atanu K. ^{[1
]}

Ekbote, Alka V. ^{[1
]}

Thomas, Niranjan ^{[2
]}

Omprakash, Sabitha ^{[1
]}

Danda, Sumita ^{[1
]}

机构：

[1] Christian Med Coll & Hosp, Dept Clin Genet, Vellore, Tamil Nadu, India

[2] Christian Med Coll & Hosp, Dept Neonatol, Vellore, Tamil Nadu, India

来源：

CLINICAL DYSMORPHOLOGY | 2016年 / 25卷 / 04期

关键词：

CUTIS LAXA; PHENOTYPIC SPECTRUM; MUTATIONS; PYCR1;

D O I：

10.1097/MCD.0000000000000142

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：190 / 191

页数：2

共 5 条

[1] Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
Dimopoulou, Aikaterini
Fischer, Bjorn
Gardeitchik, Thatjana
Schroeter, Phillipe
Kayserili, Hullya
Schlack, Claire
Li, Yun
Brum, Jaime Moritz
Barisic, Ingeborg
Castori, Marco
Spaich, Christiane
Fletcher, Elaine
Mahayri, Zeina
Bhat, Meenakshi
Girisha, Katta M.
Lachlan, Katherine
Johnson, Diana
Phadke, Shubha
Gupta, Neerja
Simandlova, Martina
Kabra, Madhulika
David, Albert
Nijtmans, Leo
Chitayat, David
Tuysuz, Beyhan
Brancati, Francesco
Mundlos, Stefan
Van Maldergem, Lionel
Morava, Eva
Wollnik, Bernd
Kornak, Uwe
[J]. MOLECULAR GENETICS AND METABOLISM, 2013, 110 (03) : 352 - 361
[2] Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Fischer-Zirnsak, Bjoern
Escande-Beillard, Nathalie
Ganesh, Jaya
Tan, Yu Xuan
Al Bughaili, Mohammed
Lin, Angela E.
Sahai, Inderneel
Bahena, Paulina
Reichert, Sara L.
Loh, Abigail
Wright, Graham D.
Liu, Jaron
Rahikkala, Elisa
Pivnick, Eniko K.
Choudhri, Asim F.
Krueger, Ulrike
Zemojtel, Tomasz
van Ravenswaaij-Arts, Conny
Mostafavi, Roya
Stolte-Dijkstra, Irene
Symoens, Sofie
Pajunen, Leila
Al-Gazali, Lihadh
Meierhofer, David
Robinson, Peter N.
Mundlos, Stefan
Villarroel, Camilo E.
Byers, Peter
Masri, Amira
Robertson, Stephen P.
Schwarze, Ulrike
Callewaert, Bert
Reversade, Bruno
Kornak, Uwe
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 97 (03) : 483 - 492
[3] Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome
Lin, Dar-Shong
Chang, Jui-Hsing
Liu, Hsuan-Liang
Wei, Chin-Hung
Yeung, Chun-Yan
Ho, Che-Sheng
Shu, Chyong-Hsin
Chiang, Ming-Fu
Chuang, Chih-Kuang
Huang, Yu-Wen
Wu, Tsu-Yen
Jian, Yuan-Ren
Huang, Zon-Darr
Lin, Shuan-Pei
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (12) : 3095 - 3099
[4] Mutations in PYCR1 cause cutis laxa with progeroid features
Reversade, Bruno
Escande-Beillard, Nathalie
Dimopoulou, Aikaterini
Fischer, Bjoern
Chng, Serene C.
Li, Yun
Shboul, Mohammad
Tham, Puay-Yoke
Kayserili, Huelya
Al-Gazali, Lihadh
Shahwan, Monzer
Brancati, Francesco
Lee, Hane
O'Connor, Brian D.
Schmidt-von Kegler, Mareen
Merriman, Barry
Nelson, Stanley F.
Masri, Amira
Alkazaleh, Fawaz
Guerra, Deanna
Ferrari, Paola
Nanda, Arti
Rajab, Anna
Markie, David
Gray, Mary
Nelson, John
Grix, Arthur
Sommer, Annemarie
Savarirayan, Ravi
Janecke, Andreas R.
Steichen, Elisabeth
Sillence, David
Hausser, Ingrid
Budde, Birgit
Nuernberg, Gudrun
Nuernberg, Peter
Seemann, Petra
Kunkel, Desiree
Zambruno, Giovanna
Dallapiccola, Bruno
Schuelke, Markus
Robertson, Stephen
Hamamy, Hanan
Wollnik, Bernd
Van Maldergem, Lionel
Mundlos, Stefan
Kornak, Uwe
[J]. NATURE GENETICS, 2009, 41 (09) : 1016 - U88
[5] Further Expansion of the Phenotypic Spectrum Associated With Mutations in ALDH18A1, Encoding Δ1-Pyrroline-5-Carboxylate Synthase (P5CS)
Skidmore, David L.
Chitayat, David
Morgan, Tim
Hinek, Alek
Fischer, Bjoern
Dimopoulou, Aikaterini
Somers, Gino
Halliday, William
Blaser, Susan
Diambomba, Yenge
Lemire, Edmond G.
Kornak, Uwe
Robertson, Stephen P.
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (08) : 1848 - 1856

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