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American Journal of Medical Genetics|September 20, 2002
Pigmentary mosaicism of the hyperpigmented type in two half-brothersDenise Horn, Rudolf Happle, Heidemarie Neitzel, et al.Pediatric Radiology|June 13, 2003
Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)Luitgard M Neumann, Ianina Scheer, Jürgen Kunze, et al.Pediatric Radiology|September 10, 2003
Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton typeLuitgard Neumann, Jürgen Kunze, Markus Uhl, et al.European Journal of Pediatrics|August 9, 2003
Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutationLuitgard M Neumann, Arpad von Moers, Jürgen Kunze, et al.American Journal of Medical Genetics. Part A|February 25, 2003
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn, Heidemarie Neitzel, Holger Tönnies, et al.American Journal of Medical Genetics|March 14, 2002
ABCD syndrome is caused by a homozygous mutation in the EDNRB geneJoke B G M Verheij, Jürgen Kunze, Jan Osinga, et al.European Journal of Human Genetics : EJHG|October 23, 2003
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypesSeval Türkmen, Gabriele Gillessen-Kaesbach, Peter Meinecke, et al.European Journal of Human Genetics : EJHG|September 2, 2004
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, et al.Pageof 1