000 02911 a2200925 4500
005 20250516014737.0
264 0 _c20110321
008 201103s 0 0 eng d
022 _a1945-7197
024 7 _a10.1210/jc.2010-1024
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMaimoun, Laurent
245 0 0 _aPhenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
_h[electronic resource]
260 _bThe Journal of clinical endocrinology and metabolism
_cFeb 2011
300 _a296-307 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _a3-Oxo-5-alpha-Steroid 4-Dehydrogenase
_xdeficiency
650 0 4 _aAdolescent
650 0 4 _aAlleles
650 0 4 _aAmino Acid Substitution
_xgenetics
650 0 4 _aAndrogen-Insensitivity Syndrome
_xdiagnosis
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCohort Studies
650 0 4 _aDNA
_xgenetics
650 0 4 _aDihydrotestosterone
_xblood
650 0 4 _aDisorders of Sex Development
_xgenetics
650 0 4 _aExons
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenitalia, Female
_xabnormalities
650 0 4 _aGenitalia, Male
_xabnormalities
650 0 4 _aGenotype
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMembrane Proteins
_xgenetics
650 0 4 _aMutation
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Genetic
_xgenetics
650 0 4 _aTestosterone
_xblood
650 0 4 _aYoung Adult
700 1 _aPhilibert, Pascal
700 1 _aCammas, Benoit
700 1 _aAudran, Françoise
700 1 _aBouchard, Philippe
700 1 _aFenichel, Patrick
700 1 _aCartigny, Maryse
700 1 _aPienkowski, Catherine
700 1 _aPolak, Michel
700 1 _aSkordis, Nicos
700 1 _aMazen, Inas
700 1 _aOcal, Gonul
700 1 _aBerberoglu, Merih
700 1 _aReynaud, Rachel
700 1 _aBaumann, Clarisse
700 1 _aCabrol, Sylvie
700 1 _aSimon, Dominique
700 1 _aKayemba-Kay's, Kabangu
700 1 _aDe Kerdanet, Marc
700 1 _aKurtz, François
700 1 _aLeheup, Bruno
700 1 _aHeinrichs, Claudine
700 1 _aTenoutasse, Sylvie
700 1 _aVan Vliet, Guy
700 1 _aGrüters, Annette
700 1 _aEunice, Marumudi
700 1 _aAmmini, Ariachery C
700 1 _aHafez, Mona
700 1 _aHochberg, Ze'ev
700 1 _aEinaudi, Sylvia
700 1 _aAl Mawlawi, Horia
700 1 _aNuñez, Cristóbal J del Valle
700 1 _aServant, Nadège
700 1 _aLumbroso, Serge
700 1 _aParis, Françoise
700 1 _aSultan, Charles
773 0 _tThe Journal of clinical endocrinology and metabolism
_gvol. 96
_gno. 2
_gp. 296-307
856 4 0 _uhttps://doi.org/10.1210/jc.2010-1024
_zAvailable from publisher's website
999 _c20438179
_d20438179