Zenaty, Delphine <br/><br/>
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).  [electronic resource] 

 -  Molecular and cellular endocrinology  Jul 2006 
 - 78-83 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0303-7207 
<br/><br/><label>Standard No.: </label>10.1016/j.mce.2006.04.006  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Cleft Palate--genetics<br/>Cryptorchidism--genetics<br/>DNA Mutational Analysis<br/>Deafness--congenital<br/>Dental Enamel Hypoplasia--genetics<br/>Follicle Stimulating Hormone--blood<br/>Genitalia, Male--abnormalities<br/>Humans<br/>Infant<br/>Kallmann Syndrome--genetics<br/>Karyotyping<br/>Luteinizing Hormone--blood<br/>Male<br/>Mutation<br/>Olfaction Disorders--congenital<br/>Olfactory Bulb--abnormalities<br/>Pedigree<br/>Phenotype<br/>Puberty, Delayed--genetics<br/>Receptor, Fibroblast Growth Factor, Type 1--genetics<br/>Syndactyly--genetics<br/>Synkinesis--congenital<br/>Testosterone--blood