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Volumn 75, Issue 5, 1998, Pages 523-529

Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carriers

Author keywords

Acromesomelic dysplasia; Bone aplasias and hypoplasias; Cartilage derived morphogenetic protein 1; Disproportionate dwarfism; Grebe syndrome; Polydactyly

Indexed keywords

MORPHOGEN;

EID: 0032539652     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980217)75:5<523::AID-AJMG13>3.0.CO;2-M     Document Type: Article
Times cited : (46)

References (23)
  • 2
    • 0022713272 scopus 로고
    • Heterozygote expression in Grebe chondrodysplasia
    • Curtis D (1986): Heterozygote expression in Grebe chondrodysplasia. Clin Genet 29:455-456.
    • (1986) Clin Genet , vol.29 , pp. 455-456
    • Curtis, D.1
  • 3
    • 0012409634 scopus 로고
    • Discussion
    • Alan R. Liss
    • Freire-Maia N, Lenz WD (1969): Discussion. Alan R. Liss, BD: OAS V (4):14-16.
    • (1969) BD: OAS , vol.5 , Issue.4 , pp. 14-16
    • Freire-Maia, N.1    Lenz, W.D.2
  • 4
    • 0016770647 scopus 로고
    • Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships
    • Garcia-Castro JM, Perez-Comas A (1975): Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships. J Pediatr 87:948-952.
    • (1975) J Pediatr , vol.87 , pp. 948-952
    • Garcia-Castro, J.M.1    Perez-Comas, A.2
  • 5
    • 0001989155 scopus 로고
    • Die Achondrogenesis. Ein einfach rezessives Erbmerkmal
    • Grebe H (1952): Die Achondrogenesis. Ein einfach rezessives Erbmerkmal. Folia Hered Pathol (Pavia) 2:23-29.
    • (1952) Folia Hered Pathol (Pavia) , vol.2 , pp. 23-29
    • Grebe, H.1
  • 6
    • 0015883103 scopus 로고
    • The anatomy and development of brachypodism in the mouse
    • Grüneberg H, Lee AJ (1973): The anatomy and development of brachypodism in the mouse. J Embryol Exp Morphol 30:119-141.
    • (1973) J Embryol Exp Morphol , vol.30 , pp. 119-141
    • Grüneberg, H.1    Lee, A.J.2
  • 7
    • 0029737070 scopus 로고    scopus 로고
    • Bone morphogenetic proteins: Multifunctional regulators of vertebrate development
    • Hogan BLM (1996): Bone morphogenetic proteins: Multifunctional regulators of vertebrate development. Genes Dev 10:1580-1594.
    • (1996) Genes Dev , vol.10 , pp. 1580-1594
    • Hogan, B.L.M.1
  • 8
    • 0017128380 scopus 로고
    • Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases
    • Hunter AGW, Thompson MW (1976): Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases. Hum Genet 34:107-113.
    • (1976) Hum Genet , vol.34 , pp. 107-113
    • Hunter, A.G.W.1    Thompson, M.W.2
  • 9
    • 0012380636 scopus 로고
    • Congenital deformities of limbs in different members of a family
    • John K, Gundappa MP (1963): Congenital deformities of limbs in different members of a family. J Indian Med Assoc 41:559.
    • (1963) J Indian Med Assoc , vol.41 , pp. 559
    • John, K.1    Gundappa, M.P.2
  • 10
    • 0021366750 scopus 로고
    • Grebe chondrodysplasia and brachydactyly in a family
    • Kumar D, Curtis D, Blank CE (1984): Grebe chondrodysplasia and brachydactyly in a family. Clin Genet 25:68-72.
    • (1984) Clin Genet , vol.25 , pp. 68-72
    • Kumar, D.1    Curtis, D.2    Blank, C.E.3
  • 11
    • 0024577440 scopus 로고
    • A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type
    • Langer LO, Cervenka J, Camargo M (1989): A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum Genet 81:323-328.
    • (1989) Hum Genet , vol.81 , pp. 323-328
    • Langer, L.O.1    Cervenka, J.2    Camargo, M.3
  • 12
    • 0020405582 scopus 로고
    • Grebe chondrodysplasia in three generations of an Andhra family in India
    • Meera Khan PM, Khan A (1982): Grebe chondrodysplasia in three generations of an Andhra family in India. Prog Clin Biol Res 104:69-80.
    • (1982) Prog Clin Biol Res , vol.104 , pp. 69-80
    • Meera Khan, P.M.1    Khan, A.2
  • 13
    • 0343514101 scopus 로고    scopus 로고
    • Collection of deficiencies of SEM signal collection contrasts measured and corrected by differential hysteresis processing
    • Peters K-R (1996): Collection of deficiencies of SEM signal collection contrasts measured and corrected by differential hysteresis processing. Scanning 18:539-555.
    • (1996) Scanning , vol.18 , pp. 539-555
    • Peters, K.-R.1
  • 15
    • 0015365048 scopus 로고
    • Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations
    • Poznanski AK, Garn SM, Nagy JM, Gall JC (1972): Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. Radiology 104:1-11.
    • (1972) Radiology , vol.104 , pp. 1-11
    • Poznanski, A.K.1    Garn, S.M.2    Nagy, J.M.3    Gall, J.C.4
  • 16
    • 0002197641 scopus 로고
    • A new type of dwarfism with various bone aplasias and hypoplasias of the extremities
    • Quelce-Salgado A (1964): A new type of dwarfism with various bone aplasias and hypoplasias of the extremities. Acta Genet (Basel) 14:63-66.
    • (1964) Acta Genet (Basel) , vol.14 , pp. 63-66
    • Quelce-Salgado, A.1
  • 17
    • 0014434126 scopus 로고
    • A rare genetic syndrome
    • Quelce-Salgado A (1968): A rare genetic syndrome. Lancet 1:1430.
    • (1968) Lancet , vol.1 , pp. 1430
    • Quelce-Salgado, A.1
  • 19
    • 0026566777 scopus 로고
    • International classification of osteochondrodysplasias
    • Spranger J (1992): International classification of osteochondrodysplasias. Eur J Pediatr 151:407-415.
    • (1992) Eur J Pediatr , vol.151 , pp. 407-415
    • Spranger, J.1
  • 20
    • 0028232724 scopus 로고
    • Limb alterations in brachypodism mice due to mutations in a new member of the TGFβ superfamily
    • Storm EE, Huynh TV, Copeland NG, Jenkins NA, Kingsley DM, Lee S-J (1994): Limb alterations in brachypodism mice due to mutations in a new member of the TGFβ superfamily. Nature 368:639-643.
    • (1994) Nature , vol.368 , pp. 639-643
    • Storm, E.E.1    Huynh, T.V.2    Copeland, N.G.3    Jenkins, N.A.4    Kingsley, D.M.5    Lee, S.-J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.