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Journal Article
Castori, Marco 
ORCID: 0000-0002-6069-0993, Pascolini, Giulia ORCID: 0000-0002-2440-7441, Parisi, Valentina, Sana, Maria Elena, Novelli, Antonio ORCID: 0000-0002-9037-4297, Nuernberg, Peter, Iascone, Maria and Grammatico, Paola
(2015).
Microcephaly, Ectodermal Dysplasia, Multiple Skeletal Anomalies, and Distinctive Facial Appearance: Delineation of Cerebro-Dermato-Osseous-Dysplasia.
Am. J. Med. Genet. A, 167 (4).
S. 842 - 852.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1552-4833
Castori, Marco ORCID: 0000-0002-6069-0993, Pascolini, Giulia ORCID: 0000-0002-2440-7441, Parisi, Valentina, Sana, Maria Elena, Novelli, Antonio ORCID: 0000-0002-9037-4297, Nuernberg, Peter, Iascone, Maria and Grammatico, Paola
(2015).
Microcephaly, Ectodermal Dysplasia, Multiple Skeletal Anomalies, and Distinctive Facial Appearance: Delineation of Cerebro-Dermato-Osseous-Dysplasia.
Am. J. Med. Genet. A, 167 (4).
S. 842 - 852.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1552-4833
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