A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

Faiyaz‐Ul‐Haque, Muhammad, Zaidi, Syed Hassan Ejaz, Al‐Ali, Mariam, Al‐Mureikhi, Mariam S., Kennedy, Shelley, Al‐Thani, Ghalia, Tsui, Lap‐Chee, Teebi, Ahmad Said·2004·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.30005

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