000 01920 a2200553 4500
005 20250515030953.0
264 0 _c20061025
008 200610s 0 0 eng d
022 _a0303-7207
024 7 _a10.1016/j.mce.2006.04.006
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aZenaty, Delphine
245 0 0 _aPaediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
_h[electronic resource]
260 _bMolecular and cellular endocrinology
_cJul 2006
300 _a78-83 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aCleft Palate
_xgenetics
650 0 4 _aCryptorchidism
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDeafness
_xcongenital
650 0 4 _aDental Enamel Hypoplasia
_xgenetics
650 0 4 _aFollicle Stimulating Hormone
_xblood
650 0 4 _aGenitalia, Male
_xabnormalities
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aKallmann Syndrome
_xgenetics
650 0 4 _aKaryotyping
650 0 4 _aLuteinizing Hormone
_xblood
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aOlfaction Disorders
_xcongenital
650 0 4 _aOlfactory Bulb
_xabnormalities
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPuberty, Delayed
_xgenetics
650 0 4 _aReceptor, Fibroblast Growth Factor, Type 1
_xgenetics
650 0 4 _aSyndactyly
_xgenetics
650 0 4 _aSynkinesis
_xcongenital
650 0 4 _aTestosterone
_xblood
700 1 _aBretones, Patricia
700 1 _aLambe, Cécile
700 1 _aGuemas, Isabelle
700 1 _aDavid, Michel
700 1 _aLéger, Juliane
700 1 _ade Roux, Nicolas
773 0 _tMolecular and cellular endocrinology
_gvol. 254-255
_gp. 78-83
856 4 0 _uhttps://doi.org/10.1016/j.mce.2006.04.006
_zAvailable from publisher's website
999 _c16353276
_d16353276