نتایج جستجو برای: kallmann syndrome
تعداد نتایج: 621960 فیلتر نتایج به سال:
A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism
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The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Cli...
KAL1 is implicated in 5% of Kallmann syndrome cases, a disorder which genotypically overlaps with septo-optic dysplasia (SOD). To date, a reporter-based assay to assess the functional consequences of KAL1 mutations is lacking. We aimed to develop a luciferase assay for novel application to functional assessment of rare KAL1 mutations detected in a screen of 422 patients with SOD. Quantitative a...
The objective of the study was to evaluate the clinical features of congenital anosmia. We retrospectively analyzed 205 patients at our hospital for olfactory disturbances over a 4-year period. The overall prevalence of congenital anosmia was found to be 3.4% (7/205). Magnetic resonance imaging of the brain revealed the absence of the olfactory bulbs, tracts, and hypoplasia of the olfactory sul...
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