A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome

Author:

Baraitser M,Burn J,Fixsen J

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference5 articles.

1. The distal arthrogryposes: delineation of new entities-review and nosologic discussion;Hall, J.G.; Reed, S.D.; Greene, G.;Am J Med Genet,1982

2. Recessive form of FreemanSheldon's syndrome or "whistling face";Alves, A.F.; Azevedo, E.S.;J Med Genet,1977

3. Camptodactyly with muscular hypoplasia, skeletal dysplasia and abnormal palmar creases. Tel Hashomer camptodactyly syndrome;Goodman, R.M.; Katznelson, M.; Hertz, M.; Katznelson, A.;J Med Genet,1976

4. Congenital blepharophimosis associated with a unique generalized myopathy;Schwartz 0, Jampel RS;Arch Ophthalmol

5. Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder;Cantu, J.M.; Rivera, H.; Nazara, Z.; Rojas, Q.; Hernandez, A.; Garcia-Crus, D.;Clin Genet,1980

Cited by 10 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Arthrogryposes (Multiple Congenital Contractures);Emery and Rimoin's Principles and Practice of Medical Genetics;2013

2. The Dysostoses;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

3. Disorders of Keratinization;Rook's Textbook of Dermatology;2010-05-06

4. A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly;Clinical Genetics;2008-04-23

5. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

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