@article{3e34dc3423284f5d8a7e8c7bd085acc4,
title = "A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features",
abstract = "Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.",
keywords = "Chromosome Deletion, Chromosomes, Human, Pair 3, Developmental Disabilities, Facies, Female, Genetic Association Studies, Genitalia, Male, Growth Disorders, Humans, Male, Nerve Tissue Proteins, Receptors, Dopamine D3, Syndrome, Transcription Factors",
author = "Anna-Maja Molin and J Andrieux and Koolen, {D A} and V Malan and M Carella and L Colleaux and V Cormier-Daire and A David and {de Leeuw}, N and B Delobel and B Duban-Bedu and R Fischetto and F Flinter and S Kjaergaard and F Kok and Krepischi, {A C} and {Le Caignec}, C and Ogilvie, {C Mackie} and S Maia and M Mathieu-Dramard and A Munnich and O Palumbo and F Papadia and R Pfundt and W Reardon and A Receveur and M Rio and {Ronsbro Darling}, L and C Rosenberg and J S{\'a} and L Vallee and C Vincent-Delorme and L Zelante and M-L Bondeson and G Anner{\'e}n",
year = "2012",
doi = "10.1136/jmedgenet-2011-100534",
language = "English",
volume = "49",
pages = "104--9",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "B M J Group",
number = "2",
}