Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib ( PHP1B ): Another Example of Transmission Ratio Distortion-Reference-Cited by-同舟云学术

Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib ( PHP1B ): Another Example of Transmission Ratio Distortion

Published:2020-12-27 Issue:4 Volume:36 Page:696-703
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Kiuchi Zentaro¹,Reyes Monica¹,Jüppner Harald¹²^ORCID

Affiliation:

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

2. 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/jbmr.4221

Reference49 articles.

1. GNAS Locus and Pseudohypoparathyroidism

2. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

3. Pseudohypoparathyroidism

4. Pseudohypoparathyroidism - epidemiology, mortality and risk of complications

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