Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report-Reference-Cited by-同舟云学术

Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report

Published:2021-06 Issue: Volume:14 Page:101067
ISSN:2352-1872
Container-title:Bone Reports
language:en
Short-container-title:Bone Reports

Author:

Tacke Carline E.,Terheggen-Lagro Suzanne W.J.,Boot Annemieke M.,Plomp Astrid S.,Polstra Abeltje M.,van Rijn Rick R.,Struijs Peter A.A.,van den Berg Henk,Mooij Christiaan F.

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference10 articles.

1. Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH;Collinson;Am J Med Genet A,2010

2. Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease;Deshwar;Am. J. Med. Genet. A,2019

3. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes;Duchatelet;Hum. Mol. Genet.,2005

4. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia;Flöttmann;Eur. J. Hum. Genet.,2016

5. A new acro-osteolysis syndrome caused by duplications including PTHLH;Gray;J. Hum. Genet.,2014

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unique coexistence of SHOX and PTHLH gene mutations in a 12-year-old boy with syndromic short stature. Case report with literature review;Pediatria i Medycyna Rodzinna;2023-12-29

2. Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report;Pediatric Rheumatology;2022-07-30