TY - GEN AU - Fantauzzo,Katherine A AU - Tadin-Strapps,Marija AU - You,Yun AU - Mentzer,Sarah E AU - Baumeister,Friedrich A M AU - Cianfarani,Stefano AU - Van Maldergem,Lionel AU - Warburton,Dorothy AU - Sundberg,John P AU - Christiano,Angela M TI - A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice SN - 1460-2083 PY - 2008///1117 KW - Abnormalities, Multiple KW - genetics KW - Animals KW - Binding Sites KW - Chromosome Breakage KW - Chromosome Inversion KW - Chromosomes, Human, Pair 8 KW - DNA-Binding Proteins KW - Disease Models, Animal KW - Fluorescent Antibody Technique KW - GATA Transcription Factors KW - Gene Rearrangement KW - Hair Follicle KW - abnormalities KW - Humans KW - Hypertrichosis KW - congenital KW - In Situ Hybridization, Fluorescence KW - Mice KW - Molecular Sequence Data KW - Phenotype KW - Polymerase Chain Reaction KW - Repressor Proteins KW - Sp1 Transcription Factor KW - metabolism KW - Transcription Factors KW - Zinc Fingers N1 - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S UR - https://doi.org/10.1093/hmg/ddn247 ER -