Calcium and bone

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
Katrin Koehler, Miroslav P. Milev, Keshika Prematilake, Felix Reschke, Susann Kutzner, Ramona Jühlen, Dana Landgraf, Eda Utine, Filiz Hazan, Gulden Diniz, Markus Schuelke, Angela Huebner, Michael Sacher

Journal of Medical Genetics Mar 2017, 54 (3) 176-185; DOI: 10.1136/jmedgenet-2016-104108
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Alexander J Hamilton, Coralie Bingham, Timothy J McDonald, Paul R Cook, Richard C Caswell, Michael N Weedon, Richard A Oram, Beverley M Shields, Maggie Shepherd, Carol D Inward, Julian P Hamilton-Shield, Jürgen Kohlhase, Sian Ellard, Andrew T Hattersley

Journal of Medical Genetics Mar 2014, 51 (3) 165-169; DOI: 10.1136/jmedgenet-2013-102066
The revised Ghent nosology for the Marfan syndrome
Bart L Loeys, Harry C Dietz, Alan C Braverman, Bert L Callewaert, Julie De Backer, Richard B Devereux, Yvonne Hilhorst-Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M Milewicz, Reed E Pyeritz, Paul D Sponseller, Paul Wordsworth, Anne M De Paepe

Journal of Medical Genetics Jul 2010, 47 (7) 476-485; DOI: 10.1136/jmg.2009.072785
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
Pauline Arnaud, Nadine Hanna, Mélodie Aubart, Bruno Leheup, Sophie Dupuis-Girod, Sophie Naudion, Didier Lacombe, Olivier Milleron, Sylvie Odent, Laurence Faivre, Laurence Bal, Thomas Edouard, Gwenaëlle Collod-Beroud, Maud Langeois, Myrtille Spentchian, Laurent Gouya, Guillaume Jondeau, Catherine Boileau

Journal of Medical Genetics Feb 2017, 54 (2) 100-103; DOI: 10.1136/jmedgenet-2016-103996
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients
Frank Rauch, Pierre Moffatt, Moira Cheung, Peter Roughley, Liljana Lalic, Allan M Lund, Norman Ramirez, Somayyeh Fahiminiya, Jacek Majewski, Francis H Glorieux

Journal of Medical Genetics Jan 2013, 50 (1) 21-24; DOI: 10.1136/jmedgenet-2012-101307
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
A M Slavotinek, C J Tifft

Journal of Medical Genetics Sep 2002, 39 (9) 623-633; DOI: 10.1136/jmg.39.9.623
Germline RRAS2 mutations are not associated with Noonan syndrome
John J Ceremsak, Ariel Yu, Emilio Esquivel, Christina Lissewski, Martin Zenker, Mignon L Loh, Elliot Stieglitz

Journal of Medical Genetics Nov 2016, 53 (11) 728; DOI: 10.1136/jmedgenet-2016-103889
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Bjorn Menten, Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, Jean-Michel Pinoit, Frederic Huet, Bruno Verges, Jean-Michel Petit, Anne-Laure Mosca-Boidron, Nathalie Marle, Francine Mugneret, Alice Masurel-Paulet, Antonio Novelli, Zeynep Tümer, Bart Loeys, Stanislas Lyonnet, Laurence Faivre

Journal of Medical Genetics Jan 2014, 51 (1) 21-27; DOI: 10.1136/jmedgenet-2013-101939
Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome
S M Maas, M P Lombardi, A J van Essen, E L Wakeling, B Castle, I K Temple, V K A Kumar, K Writzl, Raoul C M Hennekam

Journal of Medical Genetics Oct 2009, 46 (10) 716-720; DOI: 10.1136/jmg.2009.068403
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Björn Menten, Karen Buysse, Farah Zahir, Jan Hellemans, Sara J Hamilton, Teresa Costa, Carrie Fagerstrom, George Anadiotis, Daniel Kingsbury, Barbara C McGillivray, Marco A Marra, Jan M Friedman, Frank Speleman, Geert Mortier

Journal of Medical Genetics Apr 2007, 44 (4) 264-268; DOI: 10.1136/jmg.2006.047860

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