Grebe综合征：第二例具有极其严重临床表现的病例。 - Suppr

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Grebe syndrome: a second case with extremely severe manifestations.

作者信息

Rittler M, Higa S

出版信息

J Med Genet. 1997 Dec;34(12):1038. doi: 10.1136/jmg.34.12.1038.

DOI:10.1136/jmg.34.12.1038

PMID:9429154

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051166/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9487/1051166/6ba53d7aefd5/jmedgene00254-0078-a.jpg

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Grebe syndrome: a second case with extremely severe manifestations.

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本文引用的文献

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

Nat Genet. 1997 Sep;17(1):58-64. doi: 10.1038/ng0997-58.

Grebe syndrome: a very severely affected case.

J Med Genet. 1995 Apr;32(4):326-7. doi: 10.1136/jmg.32.4.326-a.

The femoral hypoplasia-unusual facies syndrome.

J Med Genet. 1984 Oct;21(5):331-40. doi: 10.1136/jmg.21.5.331.

A rare genetic syndrome.

Lancet. 1968 Jun 29;1(7557):1430. doi: 10.1016/s0140-6736(68)92010-2.

Heterozygote expression in Grebe chondrodysplasia.

Clin Genet. 1986 May;29(5):455-6. doi: 10.1111/j.1399-0004.1986.tb00522.x.

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相似文献

Grebe syndrome: a second case with extremely severe manifestations.

J Med Genet. 1997 Dec;34(12):1038. doi: 10.1136/jmg.34.12.1038.

Kleeblattschädel syndrome.

J Ky Med Assoc. 1971 Aug;69(8):594-7.

Skeletal manifestations in Fryns syndrome.

Am J Med Genet. 1995 Jan 16;55(2):217-20. doi: 10.1002/ajmg.1320550213.

Grebe syndrome: a very severely affected case.

J Med Genet. 1995 Apr;32(4):326-7. doi: 10.1136/jmg.32.4.326-a.

[Congenital skeletal malformations and their treatment].

Duodecim. 1968;84(18):1051-67.

Roentgen rounds #90. Newborn with club feet and dislocatable hips, knees, and elbows. Campomelic dysplasia.

Orthop Rev. 1987 Sep;16(9):687-90.

Unilateral VATER association.

Am J Med Genet. 1990 Sep;37(1):60-1. doi: 10.1002/ajmg.1320370114.

[Rubinstein-Taybi syndrome (a propos of 4 cases)].

Arch Fr Pediatr. 1969 May;26(5):523-35.

Infantile thoracic dystrophy.

Br J Radiol. 1970 Mar;43(507):199-204. doi: 10.1259/0007-1285-43-507-199.

Incidence of congenital defects in South Wales, 1964-6.

Br J Prev Soc Med. 1971 May;25(2):59-64. doi: 10.1136/jech.25.2.59.

本文引用的文献

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

Nat Genet. 1997 Sep;17(1):58-64. doi: 10.1038/ng0997-58.

Grebe syndrome: a very severely affected case.

J Med Genet. 1995 Apr;32(4):326-7. doi: 10.1136/jmg.32.4.326-a.

The femoral hypoplasia-unusual facies syndrome.

J Med Genet. 1984 Oct;21(5):331-40. doi: 10.1136/jmg.21.5.331.

A rare genetic syndrome.

Lancet. 1968 Jun 29;1(7557):1430. doi: 10.1016/s0140-6736(68)92010-2.

Heterozygote expression in Grebe chondrodysplasia.

Clin Genet. 1986 May;29(5):455-6. doi: 10.1111/j.1399-0004.1986.tb00522.x.