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Literature DB >> 1308353

Waardenburg syndrome associated with meningomyelocele.

M Carezani-Gavin, S K Clarren, T Steege.

Abstract

Entities: Disease Gene Mutation

Mesh：

Year: 1992 PMID： 1308353 DOI： 10.1002/ajmg.1320420127

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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7 in total

Review 1. The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

Authors: R Morell; T B Friedman; J H Asher; L G Robbins
Journal: J Med Genet Date: 1997-06 Impact factor: 6.318

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

Authors: F A Hol; M P Geurds; S Chatkupt; Y Y Shugart; R Balling; C T Schrander-Stumpel; W G Johnson; B C Hamel; E C Mariman
Journal: J Med Genet Date: 1996-08 Impact factor: 6.318

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

Authors: F A Hol; B C Hamel; M P Geurds; R A Mullaart; F G Barr; R A Macina; E C Mariman
Journal: J Med Genet Date: 1995-01 Impact factor: 6.318

4. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Authors: C F Hoth; A Milunsky; N Lipsky; R Sheffer; S K Clarren; C T Baldwin
Journal: Am J Hum Genet Date: 1993-03 Impact factor: 11.025

Waardenburg syndrome associated with meningomyelocele.

Review 1. The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

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

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

4. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

5. Waardenburg syndrome and myelomeningocele in a family.

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

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