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Volumn 99, Issue 3, 2001, Pages 248-251

Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: Exclusion of the Aarskog (FGD1) gene as a candidate gene

Author keywords

Dislocation of patella; Joint problems; Limitation of forearm supination; Posteriorly angulated ears; Postnatal onset of short stature; Ptosis; Widow's peak

Indexed keywords

GENE PRODUCT; PROTEIN FGD1; UNCLASSIFIED DRUG;

EID: 0035869101     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1147>3.0.CO;2-T     Document Type: Article
Times cited : (1)

References (8)
  • 1
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    • A familial syndrome of short stature associated with facial dysplasia and genital anomalies
    • (1970) J Pediat , vol.70 , pp. 856-861
    • Aarskog, D.1
  • 3
    • 0018644625 scopus 로고
    • The Aarskog (facio-digito-genital) syndrome
    • (1979) Clin Genet , vol.16 , pp. 269-276
    • Hoo, J.J.1
  • 7
    • 0028126564 scopus 로고
    • Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrnme) gene: A putative Rho-Rac guanine nucleotide exchange factor
    • (1994) Cell , vol.79 , pp. 669-678
    • Pasteris, N.G.1    Cadle, A.2    Logie, L.J.3
  • 8
    • 0029157758 scopus 로고
    • An intragenic Taq1 polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome
    • (1995) Hum Genet , vol.96 , pp. 494
    • Pasteris, N.G.1    Gorski, J.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.