ListarProducción científica por tema "Mutación"
Mostrando ítems 1-3 de 3
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5α-Reductase-2 gene mutations in the Dominican Republic .
(Journal of Clinical Endocrinology and Metabolism, 1996)Male pseudohermaphroditism due to 5α-reductase deficiency was clinically and biochemically described in a large Dominican kindred of 23 families with 38 affected subjects in 1974. Recently, the 5α-reductase-2 gene defect ... -
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.
(Journal of Clinical Endocrinology and Metabolism, 2004)PROP-1 g ene mutations result in impaired production of GH, gonadotropins, TSH, and prolactin. We describe three adult siblings, aged 18-25 yr, with short stature, hypothyroidism, and lack of pubertal maturation, who were ... -
A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.
(Journal of Clinical Endocrinology and Metabolism, 1998)We repor t a novel homozygous mutation of the LH receptor (LHR) gene in three siblings: two 46XY and one 46XX. The 46XY siblings presented with female external genitalia, primary amenorrhea, and lack of breast development. ...