Dermatology

A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase
B-E Kim, K Smith, M J Petris

Journal of Medical Genetics Apr 2003, 40 (4) 290-295; DOI: 10.1136/jmg.40.4.290
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
Eva d'Hennezel, Khalid Bin Dhuban, Troy Torgerson, Ciriaco Piccirillo

Journal of Medical Genetics May 2012, 49 (5) 291-302; DOI: 10.1136/jmedgenet-2012-100759
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
K W Kjaer, L Hansen, G C Schwabe, A P Marques-de-Faria, H Eiberg, S Mundlos, N Tommerup, T Rosenberg

Journal of Medical Genetics Apr 2005, 42 (4) 292-298; DOI: 10.1136/jmg.2004.027821
CYLD mutations in familial skin appendage tumours
S Saggar, K A Chernoff, S Lodha, L Horev, S Kohl, R S Honjo, H R C Brandt, K Hartmann, J T Celebi

Journal of Medical Genetics May 2008, 45 (5) 298-302; DOI: 10.1136/jmg.2007.056127
Isolated congenital anosmia locus maps to 18p11.23-q12.2
M Ghadami, S Morovvati, K Majidzadeh-A, E Damavandi, G Nishimura, A Kinoshita, P Pasalar, K Komatsu, M T Najafi, N Niikawa, K Yoshiura

Journal of Medical Genetics Apr 2004, 41 (4) 299-303; DOI: 10.1136/jmg.2003.015313
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family
Z Fan, J Li, J Du, H Zhang, Y Shen, C-Y Wang, S Wang

Journal of Medical Genetics May 2008, 45 (5) 303-308; DOI: 10.1136/jmg.2007.055343
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes
A B Csoka, H Cao, P J Sammak, D Constantinescu, G P Schatten, R A Hegele

Journal of Medical Genetics Apr 2004, 41 (4) 304-308; DOI: 10.1136/jmg.2003.015651
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
C A Johnson, P Gissen, C Sergi

Journal of Medical Genetics May 2003, 40 (5) 311-319; DOI: 10.1136/jmg.40.5.311
Mutations in WNT10A are present in more than half of isolated hypodontia cases
Marie-José van den Boogaard, Marijn Créton, Yvon Bronkhorst, Annemieke van der Hout, Eric Hennekam, Dick Lindhout, Marco Cune, Hans Kristian Ploos van Amstel

Journal of Medical Genetics May 2012, 49 (5) 327-331; DOI: 10.1136/jmedgenet-2012-100750
Genotype–phenotype correlations in Peutz-Jeghers syndrome
C I Amos, M B Keitheri-Cheteri, M Sabripour, C Wei, T J McGarrity, M F Seldin, L Nations, P M Lynch, H H Fidder, E Friedman, M L Frazier

Journal of Medical Genetics May 2004, 41 (5) 327-333; DOI: 10.1136/jmg.2003.010900

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