000 01411 a2200385 4500
005 20250518082841.0
264 0 _c20201112
008 202011s 0 0 eng d
022 _a1477-7827
024 7 _a10.1186/s12958-020-0568-6
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGach, Agnieszka
245 0 0 _aExpanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.
_h[electronic resource]
260 _bReproductive biology and endocrinology : RB&E
_cJan 2020
300 _a8 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdolescent
650 0 4 _aAmino Acid Sequence
650 0 4 _aExtracellular Matrix Proteins
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenetic Variation
_xgenetics
650 0 4 _aHumans
650 0 4 _aHypogonadism
_xdiagnosis
650 0 4 _aKallmann Syndrome
_xdiagnosis
650 0 4 _aMale
650 0 4 _aMutation
_xgenetics
650 0 4 _aNerve Tissue Proteins
_xgenetics
650 0 4 _aReceptor, Fibroblast Growth Factor, Type 1
_xgenetics
700 1 _aPinkier, Iwona
700 1 _aSzarras-Czapnik, Maria
700 1 _aSakowicz, Agata
700 1 _aJakubowski, Lucjusz
773 0 _tReproductive biology and endocrinology : RB&E
_gvol. 18
_gno. 1
_gp. 8
856 4 0 _uhttps://doi.org/10.1186/s12958-020-0568-6
_zAvailable from publisher's website
999 _c30574448
_d30574448