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Gonadal function tests showed abnormal gonadotropic responses to LHRH, consistent with delayed puberty in the male and ovarian failure in both females. Comparison with previously reported cases of TTD associated with mental retardation suggests genetic heterogeneity, although specific biochemical markers are needed in order to answer this question.<\/jats:p>","DOI":"10.1002\/ajmg.1320350424","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:44:37Z","timestamp":1118547877000},"page":"566-573","source":"Crossref","is-referenced-by-count":22,"title":["Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings"],"prefix":"10.1002","volume":"35","author":[{"given":"Serge","family":"Przedborski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina","family":"Ferster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Goldman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9e","family":"Wolter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micheline","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tonne","family":"Tonnesen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodney J.","family":"Pollitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Vamos","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","first-page":"219","article-title":"A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature","volume":"12","author":"Arbisser AI","year":"1976","journal-title":"Birth Defects"},{"key":"e_1_2_1_3_1","first-page":"514","article-title":"The physicochemical properties of hair in the BIDS syndrome","volume":"28","author":"Baden HP","year":"1976","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1982.tb13674.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80298-X"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1983.tb00068.x"},{"key":"e_1_2_1_7_1","first-page":"1251","volume-title":"The Metabolic Basis of Inherited Disease","author":"Danks DM","year":"1983"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496431"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12534032"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443212"},{"key":"e_1_2_1_11_1","first-page":"957","article-title":"The Sabinas syndrome","volume":"33","author":"Howell RR","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1542\/peds.54.2.201","article-title":"\u201cBrittle\u201d hair with short stature, intellectual impairment and decreased fertility: An autosomal recessive syndrome in an Amish kindred","volume":"54","author":"Jackson CE","year":"1974","journal-title":"Pediatrics"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(80)80043-0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1982.tb14709.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.4.286"},{"key":"e_1_2_1_16_1","unstructured":"KingMD ArlettCF LehmannAR HayneLV StephensonJBP(1986):Clinical and cellular studies in trichothiodystrophy. 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