Prenatal Diagnosis and Genetic Counseling in a Case of Spina Bifida in a Family with Waardenburg Syndrome Type I

2006 ◽  
Vol 22 (2) ◽  
pp. 155-158 ◽  
Author(s):  
Annegret Kujat ◽  
Veit-Peter Veith ◽  
Renaldo Faber ◽  
Ursula G. Froster
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

scholarly journals Waardenburg syndrome type I

2017 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
VirendraN Sehgal ◽  
Pardeep Venkatesh
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

scholarly journals Waardenburg Syndrome Type I

2020 ◽  
Vol 87 (3) ◽  
pp. 244-244
Author(s):  
Vykuntaraju K. Gowda ◽  
Sahana Srinivas ◽  
Varunvenkat M. Srinivasan
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Waardenburg syndrome type I in a child with deletion (2) (q35q36.2)

1992 ◽  
Vol 44 (5) ◽  
pp. 699-700 ◽  
Author(s):  
Susan J. Kirkpatrick ◽  
Christine M. Kent ◽  
Renata Laxova ◽  
Gurbax S. Sekhon
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

2000 ◽  
Vol 21 (1) ◽  
pp. 25-28
Author(s):  
Vihra N. Sotirova ◽  
Tayebeh Rezaie ◽  
M.R. Khoshsorour ◽  
Mansoor Sarfarazi
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Paired Domain ◽  
Iranian Family

scholarly journals A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I

2019 ◽  
Vol 7 (7) ◽  
Author(s):  
Jing Ma ◽  
Ken Lin ◽  
Hong‐chao Jiang ◽  
Yanli Yang ◽  
Yu Zhang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene

Prenatal diagnosis of oral-facial-digital syndrome, type I.

2000 ◽  
Vol 19 (7) ◽  
pp. 491-494 ◽  
Author(s):  
T D Shipp ◽  
G C Chu ◽  
B Benacerraf
Keyword(s):  
Prenatal Diagnosis ◽  
Type I ◽  
Syndrome Type

Waardenburg Syndrome Type I: Report of Cases With Dental Phenotypes and Genetic Analysis

2015 ◽  
Vol 120 (2) ◽  
pp. e18
Author(s):  
Edimilson Martins de Freitas ◽  
Luciano Sólia Nasser ◽  
Sibele Nascimento de Aquino ◽  
Ricardo Della Coletta ◽  
Lívia Maris Paranaíba ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations

Gene ◽  
2015 ◽  
Vol 574 (2) ◽  
pp. 302-307 ◽  
Author(s):  
Nazanin Jalilian ◽  
Mohammad Amin Tabatabaiefar ◽  
Mohammad Farhadi ◽  
Tayeb Bahrami ◽  
Hesam Emamdjomeh ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome
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