戴格维-梅尔基奥尔-克劳森综合征 - Suppr

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Dyggve-Melchior-Clausen syndrome.

作者信息

Beighton P

机构信息

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

出版信息

J Med Genet. 1990 Aug;27(8):512-5. doi: 10.1136/jmg.27.8.512.

DOI:10.1136/jmg.27.8.512

PMID:2213845

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017201/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74fb/1017201/578e5225cdb7/jmedgene00046-0040-a.jpg

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Dyggve-Melchior-Clausen syndrome.戴格维-梅尔基奥尔-克劳森综合征

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Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.迪格奥尔格-梅尔乔-克劳斯综合征髋关节行为的不可预测性：对兄弟姐妹的中期评估。

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[Smith-McCort syndrome (author's transl)].

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本文引用的文献

Osteochondrodystrophy (Morquio-Brailsford type); occurrence in three siblings.骨软骨发育不良（莫尔基奥 - 布雷斯福德型）；在三个兄弟姐妹中出现。

Calif Med. 1958 Jan;88(1):55-9.

[Dyggve-Melchior-Clausen syndrome].

Tijdschr Kindergeneeskd. 1984 Jun;52(3):103-7.

Dyggve-Melchior-Clausen syndrome: normal degradation of proteodermatan sulfate, proteokeratan sulfate and heparan sulfate.迪格维-梅尔基奥尔-克劳森综合征：硫酸皮肤素蛋白聚糖、硫酸角质素蛋白聚糖和硫酸乙酰肝素的正常降解。

Clin Chim Acta. 1984 Aug 15;141(1):7-15. doi: 10.1016/0009-8981(84)90161-x.

Abnormal serum alpha 2-macroglobulin in Dyggve-Melchior-Clausen syndrome.迪格维-梅尔基奥尔-克劳森综合征患者血清α2-巨球蛋白异常。

J Clin Chem Clin Biochem. 1980 Jan;18(1):67-8.

[2 further cases of Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid apophysis and spinal compression].

Arch Fr Pediatr. 1974 Dec;31(10):985-92.

Case report 431: Dyggve-Melchior-Clausen syndrome (DMCS).

Skeletal Radiol. 1987;16(5):422-4. doi: 10.1007/BF00350972.

The Dyggve-Melchior-Clausen syndrome.迪格维-梅尔基奥尔-克劳森综合征

Am J Hum Genet. 1976 Nov;28(6):607-14.

Heterogeneity of Dyggve-Melchior-Clausen dwarfism.迪格维-梅尔基奥尔-克劳森侏儒症的异质性。

Hum Genet. 1976 Aug 30;33(3):279-87. doi: 10.1007/BF00286853.

The Dyggve-Melchior-Clausen syndrome.

Radiology. 1975 Feb;114(2):415-21. doi: 10.1148/114.2.415.

The Dyggve-Melchior-Clausen syndrome in adult siblings.

Clin Genet. 1978 Jul;14(1):24-30. doi: 10.1111/j.1399-0004.1978.tb02056.x.

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