Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance-Reference-Cited by-同舟云学术

Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance

Published:2020-10-24 Issue:1 Volume:185 Page:261-266
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,Hanna Christian²,Johnson Derek R.³⁴,Cramer Carl H.²,Tebben Peter J.⁵,Libi Sharon E.⁶,Poling Gayla L.⁶,Lanpher Brendan C.¹,Morava Eva¹⁷⁸,Schimmenti Lisa A.¹⁶⁸⁹^ORCID

Affiliation:

1. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

2. Division of Pediatric Nephrology and Hypertension Mayo Clinic Rochester Minnesota USA

3. Department of Diagnostic Radiology Mayo Clinic Rochester Minnesota USA

4. Department of Neurology Mayo Clinic Rochester Minnesota USA

5. Divisions of Pediatric Endocrinology and Endocrinology, Diabetes and Metabolism and Nutrition Mayo Clinic Rochester Minnesota USA

6. Department of Otorhinolaryngology‐Head and Neck Surgery Mayo Clinic Rochester Minnesota USA

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

8. Department of Biochemistry and Molecular Biology Mayo Clinic Rochester Minnesota USA

9. Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61942

Reference25 articles.

1. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

2. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

3. Branchio-oto-renal syndrome: The mutation spectrum inEYA1and its phenotypic consequences

4. Branchio-oto-renal syndrome with obstructive sleep apnoea

5. Phenotypic manifestations of branchiootorenal syndrome

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1. Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms;BMC Medical Genomics;2024-04-16

2. A child with branchio‐oto‐renal spectrum disorder carrying an SIX1 variant;Pediatrics International;2023-01