Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease
Context Primary ovarian insufficiency (POI) encompasses a spectrum of premature
menopause, including both primary and secondary amenorrhea. For 75% to 90% of
individuals with hypergonadotropic hypogonadism presenting as POI, the molecular etiology
is unknown. Common etiologies include chromosomal abnormalities, environmental factors,
and congenital disorders affecting ovarian development and function, as well as syndromic
and nonsyndromic single gene disorders suggesting POI represents a complex trait …
menopause, including both primary and secondary amenorrhea. For 75% to 90% of
individuals with hypergonadotropic hypogonadism presenting as POI, the molecular etiology
is unknown. Common etiologies include chromosomal abnormalities, environmental factors,
and congenital disorders affecting ovarian development and function, as well as syndromic
and nonsyndromic single gene disorders suggesting POI represents a complex trait …
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
A BEREKET - 2019 - openaccess.marmara.edu.tr
Context: Primary ovarian insufficiency (POI) encompasses a spectrum of premature
menopause, including both primary and secondary amenorrhea. For 75% to 90% of
individuals with hyper-gonadotropic hypogonadism presenting as POI, the molecular
etiology is unknown. Common etiologies include chromosomal abnormalities,
environmental factors, and congenital disorders affecting ovarian development and function,
as well as syndromic and nonsyndromic single gene disorders suggesting POI represents a …
menopause, including both primary and secondary amenorrhea. For 75% to 90% of
individuals with hyper-gonadotropic hypogonadism presenting as POI, the molecular
etiology is unknown. Common etiologies include chromosomal abnormalities,
environmental factors, and congenital disorders affecting ovarian development and function,
as well as syndromic and nonsyndromic single gene disorders suggesting POI represents a …
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