Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD-Reference-Cited by-同舟云学术

Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD

Published:2020-08-20 Issue:10 Volume:182 Page:2442-2449
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Muthusamy Karthik¹^ORCID,Macke Erica L.²³,Klee Eric W.¹²³,Tebben Peter J.⁴⁵⁶,Hand Jennifer L.¹⁴⁷,Hasadsri Linda⁸,Marcou Cherisse A.¹⁸,Schimmenti Lisa A.¹²⁹

Affiliation:

1. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

2. Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA

3. Department of Health Sciences Research Mayo Clinic Rochester Minnesota USA

4. Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota USA

5. Division of Pediatric Endocrinology Mayo Clinic Rochester Minnesota USA

6. Division of Endocrinology, Diabetes, Metabolism, and Nutrition Mayo Clinic Rochester Minnesota USA

7. Department of Dermatology Mayo Clinic Rochester Minnesota USA

8. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

9. Department of Otorhinolaryngology Mayo Clinic Rochester Minnesota USA

Publisher

Wiley