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Titolo:
X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3
Autore:
Siderius, LE; Hamel, BCJ; van Bokhoven, H; de Jager, F; van den Helm, B; Kremer, H; Heineman-de Boer, JA; Ropers, HH; Mariman, ECM;
Indirizzi:
Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Clin Genet Ctr, NL-3501 CA Utrecht, Netherlands Clin Genet Ctr Utrecht Netherlands NL-3501 CA 01 CA Utrecht, Netherlands Zuiderzee Hosp, Dept Pediat, Lelystad, Netherlands Zuiderzee Hosp Lelystad Netherlands Dept Pediat, Lelystad, Netherlands Wilhelminas Children Hosp, Utrecht, Netherlands Wilhelminas Children HospUtrecht Netherlands osp, Utrecht, Netherlands Max Planck Inst Mol Genet, Berlin, Germany Max Planck Inst Mol Genet Berlin Germany nst Mol Genet, Berlin, Germany
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 85, anno: 1999,
pagine: 216 - 220
SICI:
0148-7299(19990730)85:3<216:XMRAWC>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
SHORT STATURE; ECTODERMAL DYSPLASIA; CHROMOSOME; ANOMALIES; GENE; DEAFNESS; LINKAGE; MOTHER; DEFECT; LOCUS;
Keywords:
XLMR; cleft lip palate; linkage analysis; Xp11.3-q21.3;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Hamel, BCJ Univlandsegen Hosp, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Nether Univ Nijmegen Hosp POB 9101 Nijmegen Netherlands NL-6500 HB er
Citazione:
L.E. Siderius et al., "X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3", AM J MED G, 85(3), 1999, pp. 216-220

Abstract

A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at theta=0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval of 25 cM. Am. J. Med. Genet. 85:216-220, 1999. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 07:33:59