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Inguinal hernia and atrial septal defect in tel Hashomer camptodactyly syndrome: Report of a new case expanding the phenotypic spectrum of the disease

โœ Scribed by Franceschini, P. ;Vardeu, M. P. ;Signorile, F. ;Testa, A. ;Guala, A. ;Franceschini, D. ;Dalforno, L.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
397 KB
Volume
46
Category
Article
ISSN
0148-7299

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The Tel Hashomer camptodactyly syndrome:
โœ Pagnan, Nina Amalia Brancia ;Gollop, Thomaz Rafael ;Lederman, Henrique ;Optiz, J ๐Ÿ“‚ Article ๐Ÿ“… 1988 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 347 KB ๐Ÿ‘ 2 views

We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance is autosomal recessive with probable partial expression in the heterozygote.