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Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end\u2010stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal. \u00a9 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440415","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:28:56Z","timestamp":1118507336000},"page":"461-464","source":"Crossref","is-referenced-by-count":1,"title":["New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems"],"prefix":"10.1002","volume":"44","author":[{"given":"Richard L.","family":"Siegler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eileen D.","family":"Brewer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1968.02100010147003"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.3454.504"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(62)80005-5"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(58)90473-2"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.30.150.150"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(72)90017-4"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5337.1060"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-196809000-00005"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.131.4.563"},{"key":"e_1_2_1_11_1","unstructured":"K\u00f6nigsmark B. 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