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Volumn 140, Issue 22, 2006, Pages 2488-2492

Daughter and her mildly affected father with Keipert syndrome

Author keywords

Broad terminal phalanges; Hoarse voice; Sensorineural deafness; Unusual facies

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; DAUGHTER; FACE MALFORMATION; FATHER; FEMALE; HALLUX; HEAD CIRCUMFERENCE; HOARSENESS; HUMAN; HYPOPLASIA; JAW DISEASE; KEIPERT SYNDROME; MALE; PERCEPTION DEAFNESS; PHALANX HYPOPLASIA; PRIORITY JOURNAL; SCHOOL CHILD; SYNDROME;

EID: 33750603825     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31489     Document Type: Article
Times cited : (8)

References (7)
  • 1
    • 0030457021 scopus 로고    scopus 로고
    • Keipert syndrome in two brothers from Turkey
    • Balci S, Dagli S. 1996. Keipert syndrome in two brothers from Turkey. Clin Genet 50:223-228.
    • (1996) Clin Genet , vol.50 , pp. 223-228
    • Balci, S.1    Dagli, S.2
  • 2
    • 0033850732 scopus 로고    scopus 로고
    • Additional case of Keipert syndrome and review of the literature
    • Cappon SM, Khalifa MM. 2000. Additional case of Keipert syndrome and review of the literature. Med Sci Monit 6:776-778.
    • (2000) Med Sci Monit , vol.6 , pp. 776-778
    • Cappon, S.M.1    Khalifa, M.M.2
  • 3
    • 84993906223 scopus 로고
    • A new syndrome of broad terminal phalanges and facial abnormalities
    • Keipert JA, Fitzgerald MG, Danks DM. 1973. A new syndrome of broad terminal phalanges and facial abnormalities. Aust Paediatric J 9:10-13.
    • (1973) Aust Paediatric J , vol.9 , pp. 10-13
    • Keipert, J.A.1    Fitzgerald, M.G.2    Danks, D.M.3
  • 4
    • 0002870611 scopus 로고
    • A new autosomal recessive syndrome: Peripheral pulmonary stenosis, brachytelephalangism, neural hearing loss and abnormal cartilage calcifications/ossification
    • Keutel J, Gabriel P. 1972. A new autosomal recessive syndrome: Peripheral pulmonary stenosis, brachytelephalangism, neural hearing loss and abnormal cartilage calcifications/ossification. Birth Defects Orig Art Ser 8:60-68.
    • (1972) Birth Defects Orig Art Ser , vol.8 , pp. 60-68
    • Keutel, J.1    Gabriel, P.2
  • 6
    • 0042822021 scopus 로고    scopus 로고
    • Broad thumbs and halluces with deafness: A patient with Keipert syndrome
    • Reardon W, Hall CM. 2003. Broad thumbs and halluces with deafness: A patient with Keipert syndrome. Am J Med Genet Part A 118A:86-89.
    • (2003) Am J Med Genet Part A , vol.118 A , pp. 86-89
    • Reardon, W.1    Hall, C.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.