Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes by Čopíková, Jana, Paděrová, Jana, Románková, Věra, Havlovicová, Markéta, Balaščáková, Miroslava, Zelinová, Michaela, Vejvalková, Šárka, Simandlová, Martina, Štěpánková, Jana, Hořínová, Věra, Kantorová, Eva, Křečková, Gabriela, Pospíšilová, Jana, Boday, Arpád, Meszarosová, Anna Uhrová, Turnovec, Marek, Votýpka, Pavel, Lišková, Petra, Kremlíková Pourová, Radka

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Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome by Krepelova, Anna, Simandlova, Martina, Vlckova, Marketa, Kuthan, Pavel, Vincent, Andrea L, Liskova, Petra

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A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome by Hancarova, Miroslava, Simandlova, Martina, Drabova, Jana, Mannik, Katrin, Kurg, Ants, Sedlacek, Zdenek

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A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B -related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes by Vlckova, Marketa, Simandlova, Martina, Zimmermann, Pavel, Stranecky, Viktor, Hartmannova, Hana, Hodanova, Katerina, Havlovicova, Marketa, Hancarova, Miroslava, Kmoch, Stanislav, Sedlacek, Zdenek

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Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 by Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel

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Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa by Dimopoulou, Aikaterini, Fischer, Björn, Gardeitchik, Thatjana, Schröter, Phillipe, Kayserili, Hülya, 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

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Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes by Hancarova, Miroslava, Simandlova, Martina, Drabova, Jana, Petrak, Borivoj, Koudova, Monika, Havlovicova, Marketa, Sedlacek, Zdenek

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A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15‐p16.1 microdeletion syndrome by Hancarova, Miroslava, Simandlova, Martina, Drabova, Jana, Mannik, Katrin, Kurg, Ants, Sedlacek, Zdenek

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Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 by Brisset, Sophie, Slamova, Zuzana, Dusatkova, Petra, Briand-Suleau, Audrey, Milcent, Karen, Metay, Corinne, Simandlova, Martina, Sumnik, Zdenek, Tosca, Lucie, Goossens, Michel, Labrune, Philippe, Zemankova, Elsa, Lebl, Jan, Tachdjian, Gerard, Sedlacek, Zdenek

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A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome by Hancarova, Miroslava, Simandlova, Martina, Drabova, Jana, Mannik, Katrin, Kurg, Ants, Sedlacek, Zdenek

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Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 by Brisset, Sophie, Slamova, Zuzana, Dusatkova, Petra, Briand-Suleau, Audrey, Milcent, Karen, Metay, Corinne, Simandlova, Martina, Sumnik, Zdenek, Tosca, Lucie, Goossens, Michel, Labrune, Philippe, Zemankova, Elsa, Lebl, Jan, Tachdjian, Gerard, Sedlacek, Zdenek

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