The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature-Reference-Cited by-同舟云学术

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

Published:2020-08-31 Issue:3 Volume:184 Page:618-630
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Varela Malena Daich¹^ORCID,Jani Priyam²,Zein Wadih M.¹,D'Souza Precilla³,Wolfe Lynne⁴,Chisholm Jennifer⁵,Zalewski Christopher⁵,Adams David³⁴,Warner Blake M.²,Huryn Laryssa A.¹,Hufnagel Robert B.¹

Affiliation:

1. Ophthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes of Health (NIH) Bethesda Maryland USA

2. National Institute of Dental and Craniofacial Research, NIH Bethesda Maryland USA

3. Office of the Clinical Director National Human Genome Research Institute, NIH Bethesda Maryland USA

4. Undiagnosed Diseases Program Common Fund, NIH Bethesda Maryland USA

5. Audiology Unit, Otolaryngology Branch National Institute on Deafness and Other Communication Disorders, NIH Bethesda Maryland USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31823

Reference76 articles.

1. Medical-dental findings and management of a child with infantile Refsum disease: a case report

2. Fetal echogenic bowel in association with Zellweger syndrome

3. Nail dystrophies

4. Human Disorders of Peroxisome Biogenesis: Zellweger Spectrum and Rhizomelic Chondrodysplasia Punctata

5. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

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