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Journal Article
Dimopoulou, Aikaterini, Fischer, Bjorn, Gardeitchik, Thatjana, Schroeter, Phillipe, Kayserili, Hullya, Schlack, Claire, Li, Yun, Brum, Jaime Moritz, Barisic, Ingeborg, Castori, Marco 
ORCID: 0000-0002-6069-0993, Spaich, Christiane, Fletcher, Elaine, Mahayri, Zeina, Bhat, Meenakshi, Girisha, Katta M., Lachlan, Katherine, Johnson, Diana, Phadke, Shubha ORCID: 0000-0002-6624-082X, Gupta, Neerja, Simandlova, Martina, Kabra, Madhulika, David, Albert, Nijtmans, Leo, Chitayat, David, Tuysuz, Beyhan ORCID: 0000-0002-9620-5021, Brancati, Francesco, Mundlos, Stefan, Van Maldergem, Lionel ORCID: 0000-0001-8880-5214, Morava, Eva, Wollnik, Bernd and Kornak, Uwe
(2013).
Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Mol. Genet. Metab., 110 (3).
S. 352 - 362.
SAN DIEGO:
ACADEMIC PRESS INC ELSEVIER SCIENCE.
ISSN 1096-7206
Murray, Jennie E., Bicknell, Louise S., Yigit, Goekhan, Duker, Angela L., van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Kayserili, Huelya, Albert, Michael H., Wise, Carol A., Brandon, January, Kleefstra, Tjitske, Warris, Adilia ORCID: 0000-0001-6586-3358, van der Flier, Michiel, Bamforth, J. Steven, Doonanco, Kurston, Ades, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C. Geoffrey, Nuernberg, Peter, Gatti, Richard A., Hurles, Matthew, Bober, Michael B., Wollnik, Bernd and Jackson, Andrew P.
(2014).
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.
Hum. Mutat., 35 (1).
S. 76 - 86.
HOBOKEN:
WILEY.
ISSN 1098-1004