Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment-Reference-Cited by-同舟云学术

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment

Author:

Alhariri Ahmad¹²,Hamilton Katherine³,Oza Vikash⁴,Cordoro Kelly⁵,Sobreira Nara L.⁶,Malloy Mary⁷,Slavotinek Anne¹^ORCID

Affiliation:

1. Department of Pediatrics,; Division of Genetics; University of California; San Francisco California

2. Department of Pediatrics; Division of Medical Genetics; Children Hospital of Pittsburgh; Pittsburgh Pennsylvania

3. Department of Neurology; UCSF; San Francisco California

4. The Ronald O. Perelman Department of Dermatology; New York University School of Medicine; New York City New York

5. Department of Dermatology; UCSF; San Francisco California

6. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

7. Departments of Medicine and Pediatrics; UCSF; San Francisco California

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

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5. Cerebrotendinous xanthomatosis;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020