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Evidence for autosomal recessive inheritance in systemic carnitine deficiency

✍ Scribed by Dr. S. Di Donato; M. Rimoldi; F. Cornelio; E. Bottacchi; A. Giunta


Publisher
John Wiley and Sons
Year
1982
Tongue
English
Weight
297 KB
Volume
11
Category
Article
ISSN
0364-5134

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Dandy-Walker malformation with postaxial
✍ Cavalcanti, D.P.; SalomοΏ½o, M.A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 9 KB πŸ‘ 2 views

We describe an infant with Dandy-Walker malformation and tetramelic postaxial polydactyly type 1A. Parental consanguinity reinforces previous suggestions for autosomal recessive inheritance. Am. J. Med. Genet. 85:183-184, 1999.