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hrp0092p2-189 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Anophthalmia, Micrognathia, Combined Pituitary Hormone Deficiency, Severe Growth Retardation and Liver Dysfunction Induced Levothyroxine Sodium Powder in a Boy with Microdeletion of 14q22q23

Koyama Satomi , Naganuma Junko , Tsuboi Yayoi , Suzumura Hiroshi , Yoshihara Shigemi

Background: Microdeletion of 14q22q23 results in a rare chromosomal disorder associated with microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly, micrognathia, growth restriction and mental retardation. Haploinsufficiency of the genes OTX2 (orthodenticle homeobox 2) and BMP4 (bone morphogenetic protein 4) are responsible for most of the phenotypic features in the 14q22q23 microdeletion syndrome. There are only a few reports about liver dys...

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ESPE Abstracts

Anophthalmia, Micrognathia, Combined Pituitary Hormone Deficiency, Severe Growth Retardation and Liver Dysfunction Induced Levothyroxine Sodium Powder in a Boy with Microdeletion of 14q22q23

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