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Human Genetics|December 18, 1998
Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of XpB Fritz, W Küster, K H Orstavik, et al.
Development (Cambridge, England)|November 1, 1992
PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumorsA Poleev, H Fickenscher, S Mundlos, et al.
The Journal of Biological Chemistry|August 30, 1996
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrixS Mundlos, D Chan, Y M Weng, et al.
Clinical Genetics|July 12, 2008
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4E Steichen-Gersdorf, I Gassner, A Superti-Furga, et al.
American Journal of Medical Genetics|May 3, 1996
Clinical and ultrastructural findings in three patients with geleophysic dysplasiaB F Pontz, H Stöss, F Henschke, et al.
Genetic Counseling (Geneva, Switzerland)|February 26, 2013
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case reportM Okur, R Eroz, S Mundlos, et al.
The Journal of Pediatrics|July 1, 1991
Schimke immuno-osseous dysplasia: a newly recognized multisystem diseaseJ Spranger, G K Hinkel, H Stöss, et al.
American Journal of Medical Genetics|May 3, 1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaB Zabel, K Hilbert, H Stöss, et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists|May 15, 2016
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approachE M Olech, T Zemojtel, A Sowińska-Seidler, et al.
Human Genetics|January 1, 1985
N-Acetylneuraminic acid storage diseaseJ Baumkötter, M Cantz, K Mendla, et al.
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