Pacman dysplasia: Report of two affected sibs

Author:

Wilcox William R.,Lucas Barbie C.,Loebel Barbara,Bachman Ronald P.,Lachman Ralph S.,Rimoin David L.

Publisher

Wiley

Subject

Genetics(clinical)

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5. (1995): I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In (eds): ?The Metabolic and Molecular Bases of Inherited Disease.? New York: McGraw-Hill, Inc., pp 2495-2508.

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2. THE FETAL MUSCULOSKELETAL SYSTEM;Ultrasonography in Obstetrics and Gynecology;2008

3. P;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

4. Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes;American Journal of Medical Genetics Part A;2006-02-15

5. Distinguishing Pacman dysplasia from mucolipidosis II: Comment on Saul et al. [2005];American Journal of Medical Genetics Part A;2005

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