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THE CASE OF A 1-YEAR-OLD GIRL WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROMERochow, Niels; Bachmaier, Natalie; Tost, Frank; Beck, James F.; Bernig, Toralf · Pediatric Hematology-Oncology · 2009
The hereditary hyperferritinemia–cataract syndrome: a family studyJavier Álvarez-Coca-González; María-Isabel Moreno-Carralero; Jorge Martínez-Pérez; Manuel Méndez; Marta García-Ros; María-Josefa Morán-Jiménez · 2010
Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian familyFGA Meneses; B Schnabel; IDCG Silva; FL Alberto; L Toma; HB Nader; CC Lopes · 2011
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start siteKathryn P. Burdon; Shiwani Sharma; Celia S. Chen; David P. Dimasi; David A. Mackey; Jamie E. Craig · 2007
A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract SyndromeWong, Karen; Barbin, Yousef; Chakrabarti, Subrata; Adams, Paul · Canadian Journal of Gastroenterology · 2005
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the <i>FTL</i> geneJ Muñoz-Muñoz; N Cuadrado-Grande; M-I Moreno-Carralero; B Hoyos-Sanabria; A Manubes-Guarch; A-F González; P Tejada-Palacios; A del-Castillo-Rueda; M-J Morán-Jiménez · 2012
Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotypeGiansily-Blaizot, M.; Cunat, S.; Moulis, G.; Schved, J.-F.; Aguilar-Martinez, P. · Haematologica · 2013
Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IREGeorge Papanikolaou; Helen Chandrinou; Evrydiki Bouzas; Despina Contopoulos-Ioannidis; Vassiliki Kalotychou; Konstantinos Prentzas; Konstantinos Lilakos; Ioannis Asproudis; Danai Palaiologou; Evangelos Premetis; Ioannis Papassotiriou; Nikos Sakellaropoulos · 2006
Two Neonates with Congenital HydrocolposMurthy, Vydehi; Costalez, Jessica; Weiner, Julie; Voos, Kristin · Case Reports in Pediatrics · 2013
Cutaneous Manifestation of Metastatic Infantile ChoriocarcinomaBrooks, Timothy; Nolting, Laura · Case Reports in Pediatrics · 2014
Neonatal Pulmonary HemosiderosisLimme, Boris; Nicolescu, Ramona; Misson, Jean-Paul · Case Reports in Pediatrics · 2014
Unusual Spinal Dysraphic LesionsTude Melo, Jose Roberto; Pacheco, Pollyana; Wanderley, Luiz Eduardo · Case Reports in Pediatrics · 2013
Ectopic Lingual ThyroidKhamassi, Khaled; Jaafoura, Habib; Masmoudi, Fahmi; Lahiani, Rim; Bougacha, Lobna; Ben Salah, Mamia · Case Reports in Pediatrics · 2015
A Pain in the ButtockLandman, Zachary C.; Beres, Shannon; Cabana, Michael D. · Case Reports in Pediatrics · 2011
Warkany Syndrome: A Rare Case ReportAgrawal, Amit; Agrawal, Rashmi · Case Reports in Pediatrics · 2011
Prune Belly SyndromeTagore, Koyye Ravindranath; Ramineni, Asok Kumar S.; Vijaya Lakshmi, A. R.; N., Bhavani · Case Reports in Pediatrics · 2011