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FreeEstriolELISAkitcanbeprovidedfromCreativeDiagnostics....CDMicroplateCoating·CDELISAMatchedPairDevelopment...forthequantitativemeasurementoffreeestriol(unconjugatedestriol)inserumduringthesecondhalfofpregnancy
A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
Authors:Khattab, Ahmed; Nelson-Williams, Carol; Cabreza, Vivienne; Macdonald, Anne; Loring, Erin; Saland, Jeffrey; New, Maria I.
Abstract[1]
Mutations in the gene NR0B1 have been associated with several clinical phenotypes of X-linked adrenal hypoplasia congenita (AHC). The degree and onset of adrenal insufficiency and involvement of hypogonadotropic hypogonadism is variable and may not be concordant with the identified mutation. We review a patient with AHC in which prenatal estriol levels were low, presenting with early-onset mineralocorticoid deficiency in the newborn period followed by glucocorticoid deficiency 2 years later. The reported child is hemizyg...
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【常盈超敏感雌三醇檢驗試劑】許可證字號:衛署醫器輸壹字第004355號
器材品名:常盈超敏感雌三醇檢驗試劑許可證字號:衛署醫器輸壹字第004355號註銷狀態:已註銷註銷日期:2012/11/26註銷理由:許可...