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Journal Article
Molecular Syndromology, ISSN 1661-8769, 12/2014, Volume 5, Issue 6, pp. 304 - 306
Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare genodermatosis caused by mutations in the PKP1 gene, encoding the desmosomal plaque protein... 
Short Report | Plakophilin-1 gene | Ectodermal dysplasia-skin fragility syndrome | Egypt
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1090 - 1093
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 06/2017, Volume 6, Issue 2, pp. 118 - 121
Abstract We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's... 
Case Report | fibular aplasia | Fuhrmann's syndrome | FATCO | tibial campomelia | oligosyndactyly
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 460 - 464
Lowe syndrome (LS) is a very rare disorder of phosphatidylinositol metabolism, which manifests with a complex phenotype comprising a clinical triad... 
Lowe syndrome | OCRL | growth deficiency | oculocerebrorenal syndrome | severe osteopathy | 5-PHOSPHATASE | DISEASE | GROWTH | GENETICS & HEREDITY | VARIANT | INSIGHTS | Glaucoma | Cataracts | Phosphatidylinositol | Genotype & phenotype | Bone growth | Renal function | Kidneys | Central nervous system | Osteopathy | Seizures
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1203 - 1210
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 04/2016, Volume 17, Issue 2, pp. 233 - 238
Fraser syndrome (FS) is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal malformations and urogenital... 
Fraser syndrome | Laryngeal malformations | Urogenital defects | Cryptophthalmos | Egypt | Syndactyly | Renal agenesis | Phenotype | Genetic aspects | Genetic variation | Health aspects
Journal Article
European Chemical Bulletin, ISSN 2063-5346, 07/2017, Volume 6, Issue 6, p. 258
Journal Article
Laboratory Medicine, ISSN 0007-5027, 01/2012, Volume 43, Issue 1, pp. 29 - 30
Journal Article
by Ivanovski, Ivan and Djuric, Olivera and Caraffi, Stefano Giuseppe and Santodirocco, Daniela and Pollazzon, Marzia and Rosato, Simonetta and Cordelli, Duccio Maria and Abdalla, Ebtesam and Accorsi, Patrizia and Adam, Margaret P and Ajmone, Paola Francesca and Badura-Stronka, Magdalena and Baldo, Chiara and Baldi, Maddalena and Bayat, Allan and Bigoni, Stefania and Bonvicini, Federico and Breckpot, Jeroen and Callewaert, Bert and Cocchi, Guido and Cuturilo, Goran and De Brasi, Daniele and Devriendt, Koenraad and Dinulos, Mary Beth and Hjortshøj, Tina Duelund and Epifanio, Roberta and Faravelli, Francesca and Fiumara, Agata and Formisano, Debora and Giordano, Lucio and Grasso, Marina and Grønborg, Sabine and Iodice, Alessandro and Iughetti, Lorenzo and Kuburovic, Vladimir and Kutkowska-Kazmierczak, Anna and Lacombe, Didier and Lo Rizzo, Caterina and Luchetti, Anna and Malbora, Baris and Mammi, Isabella and Mari, Francesca and Montorsi, Giulia and Moutton, Sebastien and Møller, Rikke S and Muschke, Petra and Nielsen, Jens Erik Klint and Obersztyn, Ewa and Pantaleoni, Chiara and Pellicciari, Alessandro and Pisanti, Maria Antonietta and Prpic, Igor and Poch-Olive, Maria Luisa and Raviglione, Federico and Renieri, Alessandra and Ricci, Emilia and Rivieri, Francesca and Santen, Gijs W and Savasta, Salvatore and Scarano, Gioacchino and Schanze, Ina and Selicorni, Angelo and Silengo, Margherita and Smigiel, Robert and Spaccini, Luigina and Sorge, Giovanni and Szczaluba, Krzysztof and Tarani, Luigi and Tone, Luis Gonzaga and Toutain, Annick and Trimouille, Aurelien and Valera, Elvis Terci and Vergano, Samantha Schrier and Zanotta, Nicoletta and Zenker, Martin and Conidi, Andrea and Zollino, Marcella and Rauch, Anita and Zweier, Christiane and Garavelli, Livia
Genetics in Medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 965 - 975
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2017, Volume 19, Issue 6, pp. 691 - 700
Journal Article