Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).

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作者信息

Klein D

出版信息

Am J Med Genet. 1983 Feb;14(2):231-9. doi: 10.1002/ajmg.1320140205.

DOI:10.1002/ajmg.1320140205

PMID:6340503

Abstract

摘要

相似文献

Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).

Am J Med Genet. 1983 Feb;14(2):231-9. doi: 10.1002/ajmg.1320140205.

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Am J Med Genet. 1992 Feb 1;42(3):320-2. doi: 10.1002/ajmg.1320420312.

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[Genetic counseling in Waardenburg's syndrome].

Ned Tijdschr Geneeskd. 1979 Nov 10;123(45):1929-32.

Genetic heterogeneity in the Waardenburg syndrome.

Birth Defects Orig Artic Ser. 1971 Mar;07(4):87-101.

[A case of Waardenburg-Klein syndrome].

G Ital Dermatol Venereol. 1985 Jul-Aug;120(4):277-9.

[Waardenburg syndrome. Report of a familial case].

Ann Pediatr (Paris). 1990 Jan;37(1):55-8.

[Waardenburg's syndrome].

C R Seances Soc Biol Fil. 1996;190(5-6):577-80.

[Waardenburg's syndrome. Clinical and genetical study of a family with affected twins].

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Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

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相似文献

Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).

Am J Med Genet. 1983 Feb;14(2):231-9. doi: 10.1002/ajmg.1320140205.

Autosomal dominant inheritance of Klein-Waardenburg syndrome.

Am J Med Genet. 1992 Feb 1;42(3):320-2. doi: 10.1002/ajmg.1320420312.

Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene.

Am J Med Genet. 1990 Jan;35(1):100-4. doi: 10.1002/ajmg.1320350119.

Waardenburg syndrome--penetrance of major signs.

Am J Med Genet. 1983 Jul;15(3):383-8. doi: 10.1002/ajmg.1320150303.

[Genetic counseling in Waardenburg's syndrome].

Ned Tijdschr Geneeskd. 1979 Nov 10;123(45):1929-32.

Genetic heterogeneity in the Waardenburg syndrome.

Birth Defects Orig Artic Ser. 1971 Mar;07(4):87-101.

[A case of Waardenburg-Klein syndrome].

G Ital Dermatol Venereol. 1985 Jul-Aug;120(4):277-9.

[Waardenburg syndrome. Report of a familial case].

Ann Pediatr (Paris). 1990 Jan;37(1):55-8.

[Waardenburg's syndrome].

C R Seances Soc Biol Fil. 1996;190(5-6):577-80.

[Waardenburg's syndrome. Clinical and genetical study of a family with affected twins].

AMB Rev Assoc Med Bras. 1975 May;21(5):159-60.

引用本文的文献

Hereditary Hearing Impairment with Cutaneous Abnormalities.

Genes (Basel). 2020 Dec 30;12(1):43. doi: 10.3390/genes12010043.

Comprehensive analysis of syndromic hearing loss patients in Japan.

Sci Rep. 2019 Aug 19;9(1):11976. doi: 10.1038/s41598-019-47141-4.

Case of Waardenburg Shah syndrome in a family with review of literature.

J Otol. 2018 Sep;13(3):105-110. doi: 10.1016/j.joto.2018.05.005. Epub 2018 Jun 8.

A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

BMC Ophthalmol. 2018 Oct 11;18(1):266. doi: 10.1186/s12886-018-0933-9.

Clinical manifestations of Waardenburg syndrome in a male adolescent in Mali, West Africa.

J Community Health. 2015 Feb;40(1):103-9. doi: 10.1007/s10900-014-9942-7.

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Am J Med Genet A. 2008 Jul 15;146A(14):1880-5. doi: 10.1002/ajmg.a.32402.

Congenital hearing impairment.

Pediatr Radiol. 2006 Apr;36(4):309-24. doi: 10.1007/s00247-005-0042-9. Epub 2006 Feb 8.

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

J Med Genet. 1998 Mar;35(3):248-50. doi: 10.1136/jmg.35.3.248.

Waardenburg syndrome.

J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656.

Facts on PAX.

Am J Hum Genet. 1993 Mar;52(3):451-4.