Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
نویسندگان
چکیده
منابع مشابه
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
Kabuki syndrome (KS) is a multiple congenital anomalies/intellectual disability syndrome characterized by developmental delay, specific facial features, skeletal and visceral abnormalities. This syndrome is caused by mutations in the MLL2 and KDM6A genes. The autoimmune abnormalities have been described in very rare patients with KS. Herein, we present a very rare condition, KS coexisting with ...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2016
ISSN: 1308-5727
DOI: 10.4274/jcrpe.2686