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Volumn 122 A, Issue 1, 2003, Pages 80-83

Genitopatellar syndrome: Expanding the phenotype

Author keywords

Corpus callosum; Genitopatellar syndrome; Mental retardation; Patella; Scrotal hypoplasia

Indexed keywords

ANORECTAL MALFORMATION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART DISEASE; ECTODERMAL DYSPLASIA; FACIES; FLEXION CONTRACTURE; GENITAL MALFORMATION; GENITOPATELLAR SYNDROME; HUMAN; KIDNEY MALFORMATION; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; NAIL PATELLA SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0042819648     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20268     Document Type: Article
Times cited : (17)

References (8)
  • 1
    • 0033624052 scopus 로고    scopus 로고
    • Genitopatellar syndrome: A new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
    • Cormier-Daire V, Chauvet M-L, Lyonnet S, Briard M-L, Munnich A, Le Merrer M. 2000. Genitopatellar syndrome: A new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet 37:520-524.
    • (2000) J Med Genet , vol.37 , pp. 520-524
    • Cormier-Daire, V.1    Chauvet, M.-L.2    Lyonnet, S.3    Briard, M.-L.4    Munnich, A.5    Le Merrer, M.6
  • 4
    • 0024239729 scopus 로고
    • A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes
    • Goldblatt J, Wallis C, Zieff S. 1988. A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes. Dysmorphol Clin Genet 2:91-93.
    • (1988) Dysmorphol Clin Genet , vol.2 , pp. 91-93
    • Goldblatt, J.1    Wallis, C.2    Zieff, S.3
  • 6
    • 0037101860 scopus 로고    scopus 로고
    • Genitopatellar syndrome: Delineating the anomalies of female genitalia
    • Lammer EJ, Abrams L. 2002. Genitopatellar syndrome: Delineating the anomalies of female genitalia. Am J Med Genet 111:316-318.
    • (2002) Am J Med Genet , vol.111 , pp. 316-318
    • Lammer, E.J.1    Abrams, L.2
  • 7
    • 0034645507 scopus 로고    scopus 로고
    • Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations
    • Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E. 2000. Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations. Am J Med Genet 95:169-173.
    • (2000) Am J Med Genet , vol.95 , pp. 169-173
    • Martinez-Frias, M.L.1    Bermejo, E.2    Rodriguez-Pinilla, E.3
  • 8
    • 0037101864 scopus 로고    scopus 로고
    • Genitopatellar syndrome: A recognizable phenotype
    • Reardon W. 2002. Genitopatellar syndrome: A recognizable phenotype. Am J Med Genet 111:313-315.
    • (2002) Am J Med Genet , vol.111 , pp. 313-315
    • Reardon, W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.