2023
DOI: 10.13181/mji.cr.236954
|View full text |Cite
|
Sign up to set email alerts
|

Mutation of <em>PAX3</em> and <em>MITF</em> genes in a family with type 1 Waardenburg syndrome: a case series

Habibah Setyawati Muhiddin,
Ulfah Rimayanti,
Fadhlullah Latama
et al.

Abstract: Waardenburg syndrome (WS) is a rare genetical disorder, characterized with pigmentary abnormalities of the eyes, skin, hair, dystopia canthorum, and sensorineural deafness. In Majene, West Sulawesi, 12 members of a 4-generation family presented manifestations of WS. We examined the presence of mutations in 5 family members with type 1 WS and the other 5 normal phenotype family members to identify mutations of PAX3 and MITF genes. Ophthalmic examination and peripheral blood test were done. Conventional polymera… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

0
0
0

Publication Types

Select...

Relationship

0
0

Authors

Journals

citations
Cited by 0 publications
references
References 23 publications
0
0
0
Order By: Relevance

No citations

Set email alert for when this publication receives citations?