Connective tissue disease

Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C
T C Hart, P S Hart, M D Michalec, Y Zhang, E Firatli, T E Van Dyke, A Stabholz, A Zlorogorski, L Shapira, W A Soskolne

Journal of Medical Genetics Feb 2000, 37 (2) 88-94; DOI: 10.1136/jmg.37.2.88
The molecular genetics of Marfan syndrome and related microfibrillopathies
Peter N Robinson, Maurice Godfrey

Journal of Medical Genetics Jan 2000, 37 (1) 9-25; DOI: 10.1136/jmg.37.1.9
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?
U Moog, P Maroteaux, C T R M Schrander-Stumpel, A van Ooij, J J P Schrander, J P Fryns

Journal of Medical Genetics Nov 1999, 36 (11) 856-858; DOI: 10.1136/jmg.36.11.856
Genetic analysis of the 3′ untranslated region of the tumour necrosis factor shows a highly conserved region in rheumatoid arthritis affected and unaffected subjects
F Waldron-Lynch, C Adams, F Shanahan, M G Molloy, F O’Gara

Journal of Medical Genetics Mar 1999, 36 (3) 214-216; DOI: 10.1136/jmg.36.3.214
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)
Peining Li, Amy B Bellows, Jerry N Thompson

Journal of Medical Genetics Jan 1999, 36 (1) 21-27; DOI: 10.1136/jmg.36.1.21
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
Susanna Bunge, Astrid Knigge, Cordula Steglich, Wim J Kleijer, Otto P van Diggelen, Michael Beck, Andreas Gal

Journal of Medical Genetics Jan 1999, 36 (1) 28-32; DOI: 10.1136/jmg.36.1.28
Sotos syndrome and cutis laxa
Stephen P Robertson, Agnes Bankier

Journal of Medical Genetics Jan 1999, 36 (1) 51-56; DOI: 10.1136/jmg.36.1.51

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