Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature-Reference-Cited by-同舟云学术

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

Published:2020-03-07 Issue:5 Volume:182 Page:1093-1103
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

El Abiad Jad M.¹,Robbins Sarah M.²³^ORCID,Cohen Bernard⁴,Levin Adam S.¹,Valle David L.²,Morris Carol D.¹⁵,Macena Sobreira Nara L.²

Affiliation:

1. Department of Orthopedic SurgeryJohns Hopkins School of Medicine Baltimore Maryland USA

2. McKusick‐Nathans Department of Genetic MedicineJohns Hopkins University School of Medicine Baltimore Maryland USA

3. Predoctoral Training Program in Human GeneticsJohns Hopkins University School of Medicine Baltimore Maryland USA

4. Department of DermatologyJohns Hopkins School of Medicine Baltimore Maryland USA

5. Department of OncologyJohns Hopkins School of Medicine Baltimore Maryland USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61530

Reference23 articles.

1. IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

2. Hereditary multiple exostoses: A review of clinical appearance and metabolic pattern;Beltrami G.;Clinical Cases in Mineral and Bone Metabolism,2016

3. The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease)

4. PTHR1 mutations associated with Ollier disease result in receptor loss of function

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