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Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation

✍ Scribed by Luitgard M. Neumann; Arpad von Moers; Jürgen Kunze; Oliver Blankenstein; Thorsten Marquardt


Publisher
Springer
Year
2003
Tongue
English
Weight
245 KB
Volume
162
Category
Article
ISSN
0340-6997

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