An unusual skeletal dysplasia with platyspondyly and marked digital metaphyseal involvement: a new entity?
作者信息
Hunter A G, Wolfish N
出版信息
Prog Clin Biol Res. 1982;104:111-8.
PMID:7163253
Abstract
摘要
相似文献
1
An unusual skeletal dysplasia with platyspondyly and marked digital metaphyseal involvement: a new entity?
Prog Clin Biol Res. 1982;104:111-8.
2
Metaphyseal dysplasia, anetoderma and optic atrophy: an autosomal recessive syndrome.
Birth Defects Orig Artic Ser. 1974;10(12):61-71.
3
Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease).
Clin Genet. 1978 Nov;14(5):251-6. doi: 10.1111/j.1399-0004.1978.tb02142.x.
4
An unusual skeletal dysplasia co-existing with metachromatic leucodystrophy.
Prog Clin Biol Res. 1982;104:119-26.
5
New skeletal dysplasia with unique brachydactyly.
Am J Med Genet. 1992 Mar 1;42(5):706-13. doi: 10.1002/ajmg.1320420516.
6
Short rib-polydactyly syndrome, Majewski type.
Am J Med Genet. 1980;7(2):215-22. doi: 10.1002/ajmg.1320070214.
7
Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.
Am J Med Genet. 1979;4(3):255-61. doi: 10.1002/ajmg.1320040308.
8
New manifestations observed in the Tel Hashomer camptodactyly syndrome.
Prog Clin Biol Res. 1982;104:269-77.
9
An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies.
Birth Defects Orig Artic Ser. 1975;11(6):167-74.
10
Familial rhizomelic dysplasia: phenotypic variation or heterogeneity?
Am J Med Genet. 1987 Apr;26(4):941-7. doi: 10.1002/ajmg.1320260425.
Zotero 插件