Article
Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis.
The Journal of clinical endocrinology and metabolism - 1 Jun 2001
Ottolenghi C, Moreira-Filho C, Mendonça B B, Barbieri M, Fellous M, Berkovitz G D, McElreavey K
Abstract excerpt
The etiology of most cases of 46,XY gonadal dysgenesis in the absence of extragenital anomalies is not accounted for by mutations in the genes known to date to be involved in sex determination. We have investigated the possibility that mutations in the gene LHX9, whose murine ortholog causes isolated gonadal agenesis when inactivated, might be responsible for gonadal dysgenesis and agenesis in humans. We isolated...
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