13 citations
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June 2006 in “Pituitary” This article reports on a case where a 26-year-old woman with acromegaloidism was found to have X-tetrasomy, suggesting it should be considered in differential diagnoses due to its potential impact on growth-related genes.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
This study identified a new gene in sheep, KRTAP36-2, discovering variants associated with wool yield. Variations in this gene were linked to the efficiency of fleece conversion from greasy to clean, which may enhance wool production.
26 citations
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July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.