Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)-Reference-Cited by-同舟云学术

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

Published:2002-04-29 Issue:4 Volume:109 Page:328-331
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bodamer Olaf A.F.,Church Heather J.,Cooper Alan,Wraith J. Ed,Scott C. Ronald,Scaglia Fernando

Publisher

Wiley

Subject

Genetics (clinical)

Reference14 articles.

1. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

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3. 2001. Gaucher disease. In: editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw Hill. p 3635-3668.

4. Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)

5. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

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