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- W2059361068 abstract "We report the seventeenth case of the recessive form of the DOOR syndrome. The parents were Guatemalan and not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2-oxoglutarate excretion was normal. The patient was among a subset of DOOR syndrome patients may be useful in discussing the prognosis for newly identified cases. © 1993 Wiley-Liss, Inc." @default.
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- W2059361068 date "1993-09-15" @default.
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- W2059361068 title "DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases" @default.
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- W2059361068 doi "https://doi.org/10.1002/ajmg.1320470419" @default.
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