HESX1mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype
نویسندگان
چکیده
منابع مشابه
the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Evaluation of an Infant with Cholestasis and Congenital Hypopituitarism
We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.
متن کاملDifferent renal phenotypes in related adult males with Fabry disease with the same classic genotype
BACKGROUND Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K...
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ژورنال
عنوان ژورنال: Clinical Endocrinology
سال: 2016
ISSN: 0300-0664
DOI: 10.1111/cen.13067