A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism

Author:

de Lange Jan,van Maarle Merel C.,van den Akker Hans P.,Redeker Egbert J.W.

Publisher

Elsevier BV

Subject

General Dentistry,Otorhinolaryngology,Oral Surgery,Surgery

Reference18 articles.

1. Familial multilocular cystic disease of the jaws;Jones;Am J Cancer,1933

2. Cherubism and its charlatans;Lannon;Br J Plast Surg,2001

3. The demonstration of perivascular collagen deposition in cherubism;Hamner;Oral Surg Oral Med Oral Pathol Oral Radiol Endod,1967

4. Cherubism: a 36-year long-term follow-up of 2 generations in different families and review of the literature;von Wowern;Oral Surg Oral Med Oral Pathol Oral Radiol Endod,2000

5. Cherubism-hereditary fibrous dysplasia of the jaws; I. genetic considerations;Anderson;Oral Surg Oral Med Oral Pathol,1962

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1. Severe Cherubism Treated with Curettage, Osteotomy, and Bony Repositioning: A Case Series of Three Patients;Plastic and Reconstructive Surgery - Global Open;2022-01

2. Osteoclast-rich lesions of bone;Bone Cancer;2022

3. A report of two atypical genetic cases of cherubism: Reduced penetrance and sporadic occurrence;Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology;2021-03

4. Cherubism: a systematic literature review of clinical and molecular aspects;International Journal of Oral and Maxillofacial Surgery;2021-01

5. Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism;Journal of Pediatric Genetics;2020-02-28

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