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• W2065508723 abstract "We report on three male newborn infants of a highly inbred Lebanese family presenting with a characteristic phenotype: arthrogryposis multiplex, deafness, large inguinal hernia, hiccup-like diaphragmatic contractions, and inability to suck, requiring nasogastric gavage feeding. All three boys died from respiratory failure during the first 3 months of life. Intra vitam or post mortem examinations revealed myopathic changes and elevated glycogen content of muscle tissue. This new syndrome is probably transmitted in an autosomal recessive mode, although X-linked inheritance cannot be excluded. © 2005 Wiley-Liss, Inc." @default.
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• W2065508723 date "2005-01-01" @default.
• W2065508723 modified "2023-10-01" @default.
• W2065508723 title "Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait" @default.
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• W2065508723 doi "https://doi.org/10.1002/ajmg.a.30860" @default.
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