Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease-Reference-Cited by-同舟云学术

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Published:2013 Issue:1 Volume:8 Page:46
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Weisfeld-Adams James D,Mehta Lakshmi,Rucker Janet C,Dembitzer Francine R,Szporn Arnold,Lublin Fred D,Introne Wendy J,Bhambhani Vikas,Chicka Michael C,Cho Catherine

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference22 articles.

1. Chediak-Higashi Syndrome With Severe Cutaneous Involvement

2. The Chediak-Higashi syndrome: Electrophysiological and electron microscopic observations on the peripheral neuropathy

3. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

4. Chédiak-Higashi Syndrome

5. Peripheral neuropathy in the Chediak-Higashi syndrome

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