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Literature DB >> 8423616

Waardenburg syndrome and myelomeningocele in a family.

Abstract

We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.

Entities: Disease Gene

Mesh：

Year: 1993 PMID： 8423616 PMCID： PMC1016244 DOI： 10.1136/jmg.30.1.83

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

8 in total

1. The syndrome of Waardenburg.

Authors: J ARNVIG
Journal: Acta Genet Stat Med Date: 1959

Review 2. Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.

Authors: C E Moase; D G Trasler
Journal: J Med Genet Date: 1992-03 Impact factor: 6.318

3. Waardenburg syndrome associated with meningomyelocele.

Authors: M Carezani-Gavin; S K Clarren; T Steege
Journal: Am J Med Genet Date: 1992-01-01

4. The Waardenburg syndrome.

Authors: O A Pantke; M M Cohen
Journal: Birth Defects Orig Artic Ser Date: 1971-06

5. Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Authors: J H Asher; R Morell; T B Friedman
Journal: Am J Hum Genet Date: 1991-01 Impact factor: 11.025

Review 6. Malformation syndromes: a review of mouse/human homology.

Authors: R M Winter
Journal: J Med Genet Date: 1988-07 Impact factor: 6.318

7. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

Authors: M Tassabehji; A P Read; V E Newton; R Harris; R Balling; P Gruss; T Strachan
Journal: Nature Date: 1992-02-13 Impact factor: 49.962

8. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

Authors: C T Baldwin; C F Hoth; J A Amos; E O da-Silva; A Milunsky
Journal: Nature Date: 1992-02-13 Impact factor: 49.962

8 in total

6 in total

Waardenburg syndrome and myelomeningocele in a family.

1. The syndrome of Waardenburg.

Review 2. Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.

3. Waardenburg syndrome associated with meningomyelocele.

4. The Waardenburg syndrome.

5. Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Review 6. Malformation syndromes: a review of mouse/human homology.

7. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

8. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

1. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

2. A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

3. Absence of linkage between familial neural tube defects and PAX3 gene.

4. Genetic, chromosomal, and syndromic causes of neural tube defects.

Review 5. Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans.

6. Restricted Pax3 Deletion within the Neural Tube Results in Congenital Hydrocephalus.