Waardenburg's syndrome in two siblings, both parents and their maternal grandmother.
作者信息
David T J, Warin R P
出版信息
Proc R Soc Med. 1972 Jul;65(7):601-2. doi: 10.1177/003591577206500713.
Abstract
摘要
相似文献
1
Waardenburg's syndrome in two siblings, both parents and their maternal grandmother.两名兄弟姐妹、父母双方及其外祖母均患有瓦登伯革氏综合征。
Proc R Soc Med. 1972 Jul;65(7):601-2. doi: 10.1177/003591577206500713.
2
Waardenburg's syndrome in two siblings and their parents.
Humangenetik. 1971;14(1):81-2. doi: 10.1007/BF00273041.
3
A coloured family showing features of Waardenburg's syndrome.一个呈现瓦登伯革氏综合征特征的有色人种家庭。
S Afr Med J. 1970 Apr 4;44(14):412-3.
4
Waardenburg's syndrome with bilateral cleft lip.
Am J Dis Child. 1969 Mar;117(3):344-8. doi: 10.1001/archpedi.1969.02100030346020.
5
Waardenburg's syndrome.
J Pediatr. 1968 Jul;73(1):151. doi: 10.1016/s0022-3476(68)80057-5.
6
Waardenburg's syndrome in an African child.
Hum Hered. 1970;20(1):19-22. doi: 10.1159/000152290.
7
Waardenburg's syndrome and familial periodic paralysis.瓦登伯格综合征与家族性周期性瘫痪。
Postgrad Med J. 1971 Jun;47(548):354-60. doi: 10.1136/pgmj.47.548.354.
8
Clinical, dermatoglyphic and chromosomal study of Waardenburg's syndrome.
Tohoku J Exp Med. 1969 Sep;99(1):45-50. doi: 10.1620/tjem.99.45.
9
Waardenburg's syndrome. Report of a case with family studies.
Indian J Pediatr. 1969 Dec;36(263):483-5. doi: 10.1007/BF02821375.
10
A case of Waardenburg's syndrome.
Am J Dis Child. 1971 Aug;122(2):177-8. doi: 10.1001/archpedi.1971.02110020111020.
引用本文的文献
1
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.通过下一代测序技术在 PAX3、SOX10、EDNRB 和 MITF 基因中鉴定出 9 种新型变异与 Waardenburg 综合征相关。
Mol Genet Genomic Med. 2022 Dec;10(12):e2082. doi: 10.1002/mgg3.2082. Epub 2022 Nov 4.
2
Hypomelanosis of Itô: a neurocutaneous syndrome.伊藤色素减退症：一种神经皮肤综合征。
Arch Dis Child. 1981 Oct;56(10):798-800. doi: 10.1136/adc.56.10.798.
3
4
Heterogeneity in Waardenburg syndrome.瓦登伯革氏综合征的异质性。
Am J Hum Genet. 1977 Sep;29(5):468-85.
本文引用的文献
1
Studies on Spotting Patterns. IV. Pattern Variation and Its Developmental Significance.斑点模式研究。IV. 模式变异及其发育意义。
Genetics. 1938 Nov;23(6):523-47. doi: 10.1093/genetics/23.6.523.
2
[A Swiss family with Klein-Waardenburg's syndrome associated with hyperkeratosis of the palms and feet and with serious oligophrenia].
J Genet Hum. 1970 Dec;18(4):307-63.
Zotero 插件