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Literature DB >> 18135657

A rare case of bone dystrophy.

J HALLIDAY.

Abstract

Entities: Disease

Keywords: BONES/atrophy; OSTEOMALACIA

Mesh：

Year: 1949 PMID： 18135657 DOI： 10.1002/bjs.18003714509

Source DB: PubMed Journal: Br J Surg ISSN： 0007-1323 Impact factor: 6.939

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Cited

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8 in total

Review 1. Craniotubular bone disorders.

Authors: R J Gorlin
Journal: Pediatr Radiol Date: 1994

2. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Authors: Su Jin Kim; Tadeusz Bieganski; Young Bae Sohn; Kazimierz Kozlowski; Mikhail Semënov; Nobuhiko Okamoto; Chi Hwa Kim; Ah-Ra Ko; Geung Hwan Ahn; Yoon-La Choi; Sung Won Park; Chang-Seok Ki; Ok-Hwa Kim; Gen Nishimura; Sheila Unger; Andrea Superti-Furga; Dong-Kyu Jin
Journal: Hum Genet Date: 2011-01-09 Impact factor: 4.132

3. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.

Authors: L O Langer; P W Brill; E Afshani; C A Williams; I T Thomas; J L Frias
Journal: Skeletal Radiol Date: 1991 Impact factor: 2.199

4. A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Authors: I-Ping Chen; Liping Wang; Xi Jiang; Hector Leonardo Aguila; Ernst J Reichenberger
Journal: Hum Mol Genet Date: 2010-12-13 Impact factor: 6.150

A rare case of bone dystrophy.

Review 1. Craniotubular bone disorders.

2. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

3. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.

4. A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Review 5. The Erlenmeyer flask bone deformity in the skeletal dysplasias.

6. Van Buchem disease.

7. Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.

8. Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.