Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring
نویسندگان
چکیده
منابع مشابه
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
OBJECTIVE Heterozygous SOX2 mutations have recently been reported to cause isolated hypogonadotropic hypogonadism (HH), in addition to ocular and brain abnormalities. Here, we report a further case with a heterozygous hypomorphic SOX2 mutation and isolated HH. PATIENT The patient was a 28-year-old Japanese female with congenital right anophthalmia and poor pubertal development, who was found ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.11