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单词 Johanson Blizzard syndrome
释义

Johanson Blizzard syndrome

英语百科

Johanson–Blizzard syndrome

(重定向自Johanson Blizzard syndrome)
Johanson-Blizzard syndrome has an autosomal recessive pattern of inheritance.

Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia.

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