A novel mutation of HOXA10 in a Chinese woman with a Müllerian duct anomaly
نویسندگان
چکیده
منابع مشابه
A novel mutation of HOXA10 in a Chinese woman with a Mullerian duct anomaly.
BACKGROUND Müllerian duct anomalies consist of a set of congenital structural malformations that occur when the Müllerian ducts do not develop properly during embryonic life. Their molecular genetic basis is poorly understood. METHODS In this study, we conducted mutation analysis of the HOXA10 gene in a cohort of 109 Chinese women with Müllerian duct anomalies. RESULTS We identified a novel...
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Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshif...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2011
ISSN: 1460-2350,0268-1161
DOI: 10.1093/humrep/der290