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Diagnosis of Chediak Higashi disease in a 67‐year old woman.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3007, doi. 10.1002/ajmg.a.61886
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- Article
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
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- Publication type:
- Article
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
- Published in:
- International Journal of Dermatology, 2016, v. 55, n. 3, p. 317, doi. 10.1111/ijd.13019
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- Article