{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:56:26Z","timestamp":1761101786158},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,7,12]],"date-time":"2006-07-12T00:00:00Z","timestamp":1152662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:p>Congenital alopecia may occur either alone or in association with ectodermal and other abnormalities. On the bases of such associations, several different syndromes featuring congenital alopecia can be distinguished. Alopecia with mental retardation syndrome (APMR) is a rare autosomal recessive disorder, clinically characterized by total or partial hair loss and mental retardation. In the present study, a five\u2010generation Pakistani family with multiple affected individuals with APMR was ascertained. Patients in this family exhibited typical features of APMR syndrome. The disease locus was mapped to chromosome 3q26.2\u2010q26.31 by carrying out a genome scan followed by fine mapping. A maximum two\u2010point logarithm of odds (LOD) score of 2.93 at <jats:italic>\u03b8<\/jats:italic>= 0.0 was obtained at markers D3S3053 and D3S2309. Multipoint linkage analysis resulted in a maximum LOD score of 4.57 with several markers, which supports the linkage. The disease locus was flanked by markers D3S1564 and D3S2427, which corresponds to 9.6\u2010cM region according to the Rutgers combined linkage\u2010physical map of the human genome (build 35) and contains 5.6 Mb. The linkage interval of the APMR locus identified here does not overlap with the one described previously; therefore, this locus has been designated as APMR2.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00661.x","type":"journal-article","created":{"date-parts":[[2006,7,12]],"date-time":"2006-07-12T15:50:16Z","timestamp":1152719416000},"page":"233-239","source":"Crossref","is-referenced-by-count":12,"title":["A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2\u2010q26.31"],"prefix":"10.1111","volume":"70","author":[{"given":"A","family":"Wali","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"John","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Gul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MS","family":"Chishti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MJ","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SM","family":"Leal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,12]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5351.720"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00273-3"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201005"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000153515"},{"key":"e_1_2_6_6_2","first-page":"301","article-title":"Genetic disorder associated with severe alopecia in children","volume":"7","author":"Feinstein A","year":"1987","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.1.64"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02312522"},{"key":"e_1_2_6_9_2","first-page":"44","article-title":"Alopecia universalis\u2010mental retardation is an autosomal recessive syndrome disorder","volume":"37","author":"Benke PJ","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.3.216"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02777.x"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01271.x"},{"key":"e_1_2_6_13_2","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1080\/00325481.1971.11696716","article-title":"Neurocutaneous syndromes in children","volume":"50","author":"Allen RJ","year":"1971","journal-title":"Postgrad Med J"},{"key":"e_1_2_6_14_2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1542\/peds.54.2.201","article-title":"\u2018Brittle\u2019 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_6_15_2","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_6_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/428141"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0086-9"},{"key":"e_1_2_6_18_2","volume-title":"Molecular cloning: a laboratory manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/301904"},{"key":"e_1_2_6_20_2","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham RW","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1086\/426405"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/75514"},{"key":"e_1_2_6_23_2","first-page":"1102","article-title":"Incorrect specification of marker allele frequencies: effects on linkage analysis","volume":"52","author":"Freimer NB","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_24_2","first-page":"1506","article-title":"Computer programs for multilocus haplotyping of general pedigrees","volume":"56","author":"Weeks DE","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_25_2","first-page":"1323","article-title":"Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker\u2010sharing statistics","volume":"58","author":"Sobel E","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_26_2","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequence and analysis of the human genome","volume":"409","author":"International Human Genome Sequence Consortium","year":"2001","journal-title":"Nature"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019729"},{"key":"e_1_2_6_28_2","first-page":"3806","article-title":"Isolation of a novel candidate oncogene within a frequently amplified region at 3q26 in ovarian cancer","volume":"61","author":"Guan XY","year":"2001","journal-title":"Cancer Res"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200421134"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-08-3058"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80877-6"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2006.00661.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2006.00661.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T23:45:11Z","timestamp":1696895111000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2006.00661.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7,12]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1111\/j.1399-0004.2006.00661.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2006.00661.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7,12]]}}}