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Pathway for Kallmann's Syndrome
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创建时间：
2025-04-17
相关数据集
Supplementary Material for: Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation
Background: Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of hypogonadotropic hypogonadism and anosmia. KS is occasionally associated with deaf
DataCite Commons2020-09-02 更新100
Table_1_Seminal Plasma Lipidomics Profiling to Identify Signatures of Kallmann Syndrome.docx
BackgroundKallmann syndrome (KS) is a rare developmental disorder. Our previous metabolomics work showed substantial changes in linoleic acid and glycerophospholipid metabolism in KS. Here, we perform
NIAID Data Ecosystem50
Supplementary Material for: Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome
Background: Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes, conditions that include
DataCite Commons2020-08-25 更新40
Supplementary Material for: Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome
Background: Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes, conditions that include
DataCite Commons2020-08-25 更新70
The novel function of miR-3195 in targeting mutant PROK2 to prevent Kallmann syndrome
Kallmann syndrome (KS) is a rare human genetic disorder characterized by hypogonadotropic hypogonadism with the reduction or absence of olfactory sense. Mutations in multiple genes, including chemokin
DataONE2020-04-09 更新50
