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Volumn 161, Issue 2, 2013, Pages 237-243

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21

Author keywords

Brachydactyly; Multiple congenital anomaly syndrome; Postaxial polysyndactyly; Short stature; X linked mental retardation syndrome

Indexed keywords

ARTICLE; BRACHYDACTYLY; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; ETHNIC GROUP; FAMILY; FEMALE; FINGER MALFORMATION; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HUMAN; INTELLECTUAL IMPAIRMENT; KIDNEY HYPOPLASIA; MALE; MEXICAN; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; SCOLIOSIS; SCORING SYSTEM; SHORT STATURE; SYNDACTYLY; X CHROMOSOME; X CHROMOSOME INACTIVATION;

EID: 84872926906     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35743     Document Type: Article
Times cited : (5)

References (9)
  • 1
    • 0026678490 scopus 로고
    • Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 2
    • 44449129420 scopus 로고    scopus 로고
    • The Greig cephalopolysyndactyly syndrome
    • Biesecker LG. 2008. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis 24:3-10.
    • (2008) Orphanet J Rare Dis , vol.24 , pp. 3-10
    • Biesecker, L.G.1
  • 3
    • 0002660740 scopus 로고    scopus 로고
    • Peripheral blood cytogenetic methods.
    • Barch J, Knutsen T, Spurbeck J, editors., 3rd edition. Philadelphia, PA: Lippincott-Raven
    • Brown MG, Lawce J. 1997. Peripheral blood cytogenetic methods. In: Barch J, Knutsen T, Spurbeck J, editors. The AGT cytogenetics laboratory manual, 3rd edition. Philadelphia, PA: Lippincott-Raven. pp 77-171.
    • (1997) The AGT cytogenetics laboratory manual , pp. 77-171
    • Brown, M.G.1    Lawce, J.2
  • 5
    • 0030876936 scopus 로고    scopus 로고
    • The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3
    • Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. 1997. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Mol Genet 6:1163-1167.
    • (1997) Hum Mol Genet , vol.6 , pp. 1163-1167
    • Feather, S.A.1    Woolf, A.S.2    Donnai, D.3    Malcolm, S.4    Winter, R.M.5
  • 6
    • 84872934855 scopus 로고
    • Simpson-Golabi-Behmel syndrome type 1. 2006 Dec 19 (updated 2011 Jun 23).
    • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MR, editors. Seattle, WA: University of Washington. Available from:
    • Golabi M, Leung A, Lopez C. 1993. Simpson-Golabi-Behmel syndrome type 1. 2006 Dec 19 (updated 2011 Jun 23). In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MR, editors. GeneReviews™ (Internet). Seattle, WA: University of Washington. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1219/
    • (1993) GeneReviews™ (Internet)
    • Golabi, M.1    Leung, A.2    Lopez, C.3
  • 7
    • 0043048571 scopus 로고
    • Sequential tests for the detection of linkage
    • Morton NE. 1955. Sequential tests for the detection of linkage. Am J Hum Genet 7:277-318.
    • (1955) Am J Hum Genet , vol.7 , pp. 277-318
    • Morton, N.E.1
  • 8
    • 0033762221 scopus 로고    scopus 로고
    • Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
    • Sharp A, Robinson D, Jacobs P. 2000. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 107:343-349.
    • (2000) Hum Genet , vol.107 , pp. 343-349
    • Sharp, A.1    Robinson, D.2    Jacobs, P.3
  • 9
    • 79961126013 scopus 로고
    • Oral-facial-digital syndrome type I. 2002 Jul 24 (updated 2010 Oct 14).
    • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MR, editors. Seattle, WA: University of Washington. Available from:
    • Toriello HV, Franco B. 1993. Oral-facial-digital syndrome type I. 2002 Jul 24 (updated 2010 Oct 14). In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MR, editors. GeneReviews™ (Internet). Seattle, WA: University of Washington. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1188/
    • (1993) GeneReviews™ (Internet)
    • Toriello, H.V.1    Franco, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.