作者: R. A. Goyer , J. Reynolds , J. Burke , P. Burkholder
DOI: 10.1097/00000441-196809000-00005
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摘要: AbstractTwenty-three of 78 examined members a kindred totaling 108 persons show one or more features syndrome consisting renal disease, hearing loss, prolinuria and ichthyosis. The 14 year old female proband her 9 brother who are progeny consanguineous marriage (first co