Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism-Reference-Cited by-同舟云学术

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Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism

Published:2018 Issue:2 Volume:33 Page:252
ISSN:2093-596X
Container-title:Endocrinology and Metabolism
language:en
Short-container-title:Endocrinol Metab

Author:

Bae Jihong¹^ORCID,Choi Hong Seok¹^ORCID,Park So Young²^ORCID,Lee Do-Eun³,Lee Sihoon¹^ORCID

Affiliation:

1. Department of Internal Medicine and Laboratory of Genomics and Translational Medicine, Gachon University College of Medicine, Incheon, Korea.

2. Department of Internal Medicine, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.

3. Private Practice, Lafayette, CA, USA.

Funder

National Research Foundation of Korea

Publisher

Korean Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://synapse.koreamed.org/pdf/10.3803/EnM.2018.33.2.252

Reference34 articles.

1. Brachydactyly

2. Brachydactyly E: isolated or as a feature of a syndrome

3. Brachydactyly and Pseudo-Pseudohypoparathyroidism

4. 1,25-Dihydroxycholecalciferol Deficiency: The Probable Cause of Hypocalcemia and Metabolic Bone Disease in Pseudohypoparathyroidism

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1. Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements;2024-06-19

2. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature;Molecular Genetics & Genomic Medicine;2024-02

3. A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay;Bone Reports;2023-12

4. Characterization and expression profiling of G protein-coupled receptors (GPCRs) in Spodoptera litura (Lepidoptera: Noctuidae);Comparative Biochemistry and Physiology Part D: Genomics and Proteomics;2022-12

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