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 |