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- W2022711927 abstract "Abstract Schwartz‐Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy. Few cases with neonatal manifestations have been described. A newborn with severe manifestations is reported and the literature is reviewed." @default.
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- W2022711927 date "1987-08-01" @default.
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- W2022711927 title "Neonatal manifestations of Schwartz-Jampel syndrome" @default.
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- W2022711927 doi "https://doi.org/10.1002/ajmg.1320270409" @default.
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