TY - GEN AU - Zenaty,Delphine AU - Bretones,Patricia AU - Lambe,Cécile AU - Guemas,Isabelle AU - David,Michel AU - Léger,Juliane AU - de Roux,Nicolas TI - Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1) SN - 0303-7207 PY - 2006///1025 KW - Adolescent KW - Cleft Palate KW - genetics KW - Cryptorchidism KW - DNA Mutational Analysis KW - Deafness KW - congenital KW - Dental Enamel Hypoplasia KW - Follicle Stimulating Hormone KW - blood KW - Genitalia, Male KW - abnormalities KW - Humans KW - Infant KW - Kallmann Syndrome KW - Karyotyping KW - Luteinizing Hormone KW - Male KW - Mutation KW - Olfaction Disorders KW - Olfactory Bulb KW - Pedigree KW - Phenotype KW - Puberty, Delayed KW - Receptor, Fibroblast Growth Factor, Type 1 KW - Syndactyly KW - Synkinesis KW - Testosterone N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1016/j.mce.2006.04.006 ER -