{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:51:13Z","timestamp":1761310273969},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3949,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a girl with photosensitivity (P), ichthyosis (I), brittle hair (B), impaired intelligence (I), possibly decreased fertility (D), and short stature (S). The clinical findings fit into the PIBI(D)S syndrome and trichothiodystrophy. A remarkable and probably unique observation for this disorder was the intermittent character of the scalp hair loss during infectious periods in this patient.<\/jats:p><jats:p>Easy suntanning suggested photosensitivity and prompted DNA repair studies which demonstrated reduced UV\u2010induced DNA repair synthesis. Subsequent studies have assigned this patient to xeroderma pigmentosum group D and suggested a specific deficiency of 6\u20134 photoproduct repair. An unaffected child was diagnosed in the next pregnancy of the mother. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520220","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:16:50Z","timestamp":1118510210000},"page":"227-230","source":"Crossref","is-referenced-by-count":23,"title":["Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair\u2010xeroderma pigmentosum group D"],"prefix":"10.1002","volume":"52","author":[{"given":"Wim J.","family":"Kleijer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frits A.","family":"Beemer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bart W.","family":"Boom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/363114a0"},{"key":"e_1_2_1_3_1","first-page":"227","volume-title":"Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis","author":"Bremer HJ","year":"1981"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(90)90020-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1983.tb00068.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(90)70096-Z"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90072-B"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(73)90062-6"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350424"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(87)70118-2"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291250"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8465201"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(93)70263-S"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282072"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0921-8777(92)90073-C"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/14.6.1101"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/365852a0"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","unstructured":"VermeulenW van VuurenAJ ChipouletM SchaefferL AppeldoornE WeedaG JaspersNGJ PriestlyA ArlettCF LehmannAR BootsmaD EglyJ\u2010M HoeijmakersJHJ(1994):Three excision repair proteins in transcription factor BFT2 (TFIIH). Evidence for the existence of a transcription syndrome. 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