We found novel compound heterozygous mutations (p.Trp68X and 부천op p.Gly1536Asp) in CUL7, which is identified as a causative gene of 3M syndrome (OMIM#273750), a rare autosomal recessive primordial development disorder characterised by intrauterine and postnatal progress disorder. Targeted next-generation sequencing offered the definitive molecular prognosis of 3M syndrome that is adequate information for each disease prognosis and acceptable genetic counseling. Our case helps the usefulness of the scientific application of next-generation sequencing for undiagnosed progress problems. Most patients with major adrenal insufficiency (PAI), such as 21-hydroxylase deficiency, could be recognized biochemically by measuring urine or serum steroid metabolites, whereas a minor subset of PAI sufferers lacks diagnostic biochemical features.
P1-7-13 Allgrove Syndrome : Case Series
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P2-6-23 Two Women With Amenorrhoea Because Of Müllerian Agenesis
Patient 2 has a homozygous missense mutation in exon 5 of the ABCC8 gene which is understood to cause transient NDM (TNDM) in heterozygous but not in homozygous form. The youngster introduced on the age of 36 days with diabetic ketoacidosis. He was initially began on insulin however after getting the genetic report, was successfully converted to glibenclamide.
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She feigned sickness,retired to her bed, and when Gunnar inquired what ailed her,requested him if he recalled the circumstances of their wooing, andhow Sigurd, and never he, rode by way of the flames to win her. Sofurious was she on the dreadful insult which had been placed uponher by Gudrun that she tried to take Gunnar’s life. Shestill liked Sigurd, and could by no means forgive Gunnar and his sisterfor robbing her of him. So horrible was her grief that she sankinto a deep slumber by which she remained for seven days, no onedaring to waken her.