000 01581 a2200445 4500
005 20250515230014.0
264 0 _c20100920
008 201009s 0 0 eng d
022 _a1557-9077
024 7 _a10.1089/thy.2009.0462
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aRamos, Helton E
245 0 0 _aNew cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening.
_h[electronic resource]
260 _bThyroid : official journal of the American Thyroid Association
_cJun 2010
300 _a639-45 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aCongenital Hypothyroidism
_xgenetics
650 0 4 _aConsanguinity
650 0 4 _aDiagnostic Errors
650 0 4 _aFemale
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aInfant, Newborn
650 0 4 _aNeonatal Screening
650 0 4 _aPedigree
650 0 4 _aThyrotropin
_xanalysis
650 0 4 _aThyrotropin, beta Subunit
_xgenetics
700 1 _aLabedan, Isabelle
700 1 _aCarré, Aurore
700 1 _aCastanet, Mireille
700 1 _aGuemas, Isabelle
700 1 _aTron, Elodie
700 1 _aMadhi, Fouad
700 1 _aDelacourt, Christophe
700 1 _aMaciel, Rui M B
700 1 _aPolak, Michel
773 0 _tThyroid : official journal of the American Thyroid Association
_gvol. 20
_gno. 6
_gp. 639-45
856 4 0 _uhttps://doi.org/10.1089/thy.2009.0462
_zAvailable from publisher's website
999 _c19902366
_d19902366