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UnknownTwo Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns.
Not available
S-EPMC5331061 | biostudies-literature
UnknownClinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).
Not available
S-EPMC2928910 | biostudies-literature
UnknownGenetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.
Not available
S-EPMC5513751 | biostudies-literature
UnknownGNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
Not available
S-EPMC2710623 | biostudies-literature
UnknownDefective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism.
Not available
S-EPMC10077483 | biostudies-literature
UnknownWhen genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
Not available
S-EPMC3431570 | biostudies-literature
UnknownLoss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Not available
S-EPMC8354849 | biostudies-literature
Unknown<i>NOS1</i> mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Not available
S-EPMC7613826 | biostudies-literature
UnknownCongenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Not available
S-EPMC5863472 | biostudies-literature
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