颅骨骨干发育异常（CMD），常染色体显性遗传型。 - Suppr

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超能文献

Craniometaphyseal dysplasia (CMD), autosomal dominant form.

作者信息

Beighton P

机构信息

Department of Human Genetics, Medical School, University of Cape Town, Observatory, South Africa.

出版信息

J Med Genet. 1995 May;32(5):370-4. doi: 10.1136/jmg.32.5.370.

DOI:10.1136/jmg.32.5.370

PMID:7616544

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050432/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13e9/1050432/b95b6147ad7a/jmedgene00272-0044-a.jpg

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本文引用的文献

[CRANIOMETAPHYSIAL DYSPLASIA (PYLE)].

Z Kinderheilkd. 1965 Jun 2;93:64-79.

Familial osteodystrophy of the skull and face.家族性颅骨和面骨骨营养不良

J Bone Joint Surg Br. 1957 May;39-B(2):313-5. doi: 10.1302/0301-620X.39B2.313.

[Osseous leontiasis in the child; probable partial osteopetrosis].儿童骨狮面病；可能为部分性骨硬化症

Presse Med (1893). 1956 Apr 25;64(33):763-5.

Cranial manifestations of familial metaphyseal dysplasia.

Radiology. 1956 Mar;66(3):335-43. doi: 10.1148/66.3.335.

Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling.

AMA Arch Intern Med. 1954 Dec;94(6):871-85. doi: 10.1001/archinte.1954.00250060005001.

Familial metaphyseal dysplasia, Pyle's disease.家族性干骺端发育异常，派尔氏病。

Br J Radiol. 1954 Dec;27(324):670-5. doi: 10.1259/0007-1285-27-324-670.

Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.来自一名颅骨骨干发育异常患者的骨髓来源破骨细胞样细胞缺乏破骨细胞反应性液泡质子泵的表达。

J Clin Invest. 1993 Jan;91(1):362-7. doi: 10.1172/JCI116194.

Autosomal recessive craniometaphyseal dysplasia.

Am J Med Genet. 1980;5(1):43-55. doi: 10.1002/ajmg.1320050107.

Autosomal dominant craniometaphyseal dysplasia. Clinical variability.

Clin Genet. 1983 Jan;23(1):17-22. doi: 10.1111/j.1399-0004.1983.tb00431.x.

Dominant craniometaphyseal dysplasia. Literature review and case report.显性颅骨骨干发育异常。文献综述及病例报告。

Dentomaxillofac Radiol. 1983;12(2):95-100. doi: 10.1259/dmfr.1983.0016.

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