A Distinct Variant of Pseudohypoparathyroidism ( PHP ) First Characterized Some 41 Years Ago Is Caused by the 3‐ kb STX16 Deletion-Reference-Cited by-同舟云学术

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A Distinct Variant of Pseudohypoparathyroidism ( PHP ) First Characterized Some 41 Years Ago Is Caused by the 3‐ kb STX16 Deletion

Published:2021-06-15 Issue:7 Volume:5 Page:
ISSN:2473-4039
Container-title:JBMR Plus
language:en
Short-container-title:JBMR Plus

Author:

Kiuchi Zentaro¹,Reyes Monica¹,Brickman Arnold S²,Jüppner Harald¹³

Affiliation:

1. Endocrine Unit Massachusetts General Hospital and Harvard Medical School Boston MA USA

2. School of Medicine University of California Los Angeles Los Angeles CA USA

3. Pediatric Nephrology Unit Massachusetts General Hospital and Harvard Medical School Boston MA USA

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbm4.10505

Reference30 articles.

1. Defect of Receptor–Cyclase Coupling Protein in Pseudohypoparathyroidism

2. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism

3. Pseudohypoparathyroidism—an example of "Seabright‐Bantam syndrome";Albright F;Endocrinology.,1942

4. Pseudo‐pseudohypoparathyroidism;Albright F;Trans Assoc Am Physicians.,1952

5. Adenosine 3‘,5‘-Phosphate in Biological Materials

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1. Exonic copy number variations in rare genetic disorders;Journal of Genetic Medicine;2023-12-31

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