Skeletal malformations and polycystic kidney disease.
作者信息
Winter R M
出版信息
J Med Genet. 1993 Nov;30(11):973. doi: 10.1136/jmg.30.11.973.
Abstract
摘要
相似文献
1
Skeletal malformations and polycystic kidney disease.骨骼畸形和多囊肾病。
J Med Genet. 1993 Nov;30(11):973. doi: 10.1136/jmg.30.11.973.
2
A newborn diagnosed with van Maldergem syndrome.一名被诊断患有范·马尔德根综合征的新生儿。
Clin Dysmorphol. 2018 Apr;27(2):63-65. doi: 10.1097/MCD.0000000000000211.
3
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?一个三代家族中的B细胞免疫缺陷、肢体远端异常和泌尿生殖系统畸形：一种新型常染色体显性综合征？
J Med Genet. 2001 Jul;38(7):488-93. doi: 10.1136/jmg.38.7.488.
4
Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.
Am J Med Genet. 1999 Dec 22;87(5):426-9.
5
Symbrachydactyly involving hands and feet.累及手和足的短指（趾）畸形。
Genet Couns. 1998;9(1):23-7.
6
[Genetic background of isolated forms of congenital malformations of the hand].[手部先天性畸形孤立形式的遗传背景]
Med Wieku Rozwoj. 2008 Jul-Sep;12(3):729-37.
7
[The cleft hand. Proposal of a classification based on 279 cleft hands].[裂手。基于279例裂手提出的一种分类方法]
Handchir Mikrochir Plast Chir. 2004 Feb;36(1):47-54; discussion 55-8. doi: 10.1055/s-2004-817834.
8
[Polydactyly and other hand malformations--only a problem of the hand?].[多指畸形及其他手部畸形——仅是手部问题吗？]
Schweiz Rundsch Med Prax. 1988 May 10;77(19):537-8.
9
Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.伴有7p15缺失的手足生殖器综合征：临床可识别综合征
Pediatr Int. 2012 Jun;54(3):e22-5. doi: 10.1111/j.1442-200X.2011.03550.x.
10
Skeletal malformations and polycystic kidney disease.骨骼畸形和多囊肾病。
J Med Genet. 1994 Sep;31(9):741-2. doi: 10.1136/jmg.31.9.741-a.
引用本文的文献
1
Skeletal malformations and polycystic kidney disease.骨骼畸形和多囊肾病。
J Med Genet. 1994 Sep;31(9):741-2. doi: 10.1136/jmg.31.9.741-a.
本文引用的文献
1
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.一名产前检测出双侧肾囊肿且伴有多处骨骼畸形的新生儿常染色体显性多囊肾病的分子遗传学诊断
J Med Genet. 1993 May;30(5):419-22. doi: 10.1136/jmg.30.5.419.
2
Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia.足部IV型并指/多指畸形伴单侧胫骨缺如
Am J Med Genet. 1991 Aug 1;40(2):144-5. doi: 10.1002/ajmg.1320400204.
Zotero 插件