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acrocephalo syndactyly syndrome相关文献:
An unusual form of acrocephalo-syndactyly resembling the syndrome of Rubinstein and Taybi.
Tausanov M, Duma H, Grivceva N.
God Zb Med Fak Skopje. 1968;14:419-25.
PMID:5729198
[Apert's syndrome (acrocephalo-syndactyly). A case with 1 abnormal chromosome].
Genest P, Mortezai MA, Tremblay M.
Arch Fr Pediatr. 1966 Oct;23(8):887-97.
PMID:5972577
Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J.
Nat Genet. 1997 Jan;15(1):42-6. doi: 10.1038/ng0197-42.
PMID:8988167
["Apert's foot" (in acrocephalo-syndactyly) (author's transl)].
Blauth W, von Törne O.
Z Orthop Ihre Grenzgeb. 1978 Feb;116(1):1-6.
PMID:654428
[Demonstration of a case of acrocephalo syndactyly (maladie d'Apert)].
LUDWIG F.
Gynaecologia. 1946 Mar;121:156.
PMID:20988449
Acrocephalo-syndactyl (Apert's syndrome) - a case report.
Bhargava KN, Rao CC, Bhargava SN.
Indian J Med Sci. 1981 Aug;35(8):179-82.
PMID:7341458
[Acrocephalo-syndactylia (Apert syndrome). Clinical and radiological study of 2 cases in newborn infants].
VERGER P, TRAISSAC M, MARTIN C, LASSERRE J, BATTIN JJ.
Arch Fr Pediatr. 1962 Jan;19:91-106.
PMID:14040018
[Apert's syndrome (acrocephalosyndactylia). A case in a newborn infant associated with a structural anomaly of chromosome no. 3].
Beaudoing A, Butin LP, Hadjian AJ, Coulomb M.
Pediatrie. 1967 Sep;22(6):723-4.
PMID:5621089
[A dominant syndrome associated with polysyndactyly, spatule thumb, facial abnormalities, and mental retardation. (A particular form of Noack's acrocephalosyndactylia)].
Gnamey D, Farriaux JP.
J Genet Hum. 1971 Dec;19(4):299-316.
PMID:5152131
[Apert syndrome or type I acrocephalosyndactylia. Apropos of a case].
Sow D, Camara B, Kuakuvi N, Traore A, Diagne I, Sall MG, Moreira C, Senghor G.
Dakar Med. 1988;33(1-4):11-3.
PMID:3274991
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