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Volumn 130 A, Issue 3, 2004, Pages 284-287

The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype

Author keywords

Autosomal dominant inheritance; Cryptorchidism; KBG syndrome; Short stature

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BODY HEIGHT; CASE REPORT; CRYPTORCHISM; FAMILY STUDY; HUMAN; INCISOR; KBG SYNDROME; MALE; MENTAL DEFICIENCY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEX RATIO; SHORT STATURE; SKELETON MALFORMATION; SPINA BIFIDA;

EID: 4744348389     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30291     Document Type: Article
Times cited : (25)

References (14)
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  • 3
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    • Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism, and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome?
    • Fryns JP, Haspeslagh M. 1984. Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism, and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome? Clin Genet 26:69-72.
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    • Fryns, J.P.1    Haspeslagh, M.2
  • 6
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    • The KBG syndrome - A syndrome of short stature, characteristic facies, mental retardation, macrodontia, and skeletal anomalies
    • Herrmann J, Pallister PD, Tiddy W, Opitz JM. 1975. The KBG syndrome - A syndrome of short stature, characteristic facies, mental retardation, macrodontia, and skeletal anomalies. Birth Defects Orig Artic Ser Vol XI(5):7-18.
    • (1975) Birth Defects Orig Artic Ser Vol , vol.11 , Issue.5 , pp. 7-18
    • Herrmann, J.1    Pallister, P.D.2    Tiddy, W.3    Opitz, J.M.4
  • 8
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    • Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of KBG syndrome or a new mental retardation syndrome
    • Parloir C, Fryns JP, Deroover J, Lebas E, Goffaux P, Van den Berghe H. 1977. Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of KBG syndrome or a new mental retardation syndrome. Clin Genet 12:263-266.
    • (1977) Clin Genet , vol.12 , pp. 263-266
    • Parloir, C.1    Fryns, J.P.2    Deroover, J.3    Lebas, E.4    Goffaux, P.5    Van Den Berghe, H.6
  • 11
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    • The KBG syndrome: Follow-up data on three affected brothers
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  • 12
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    • Spencer, C.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.