scholarly journals A New Mutation in the Promoter Region of the PAX8 Gene Causes True Congenital Hypothyroidism with Thyroid Hypoplasia in a Girl with Down's Syndrome

Thyroid ◽  
2014 ◽  
Vol 24 (6) ◽  
pp. 939-944 ◽  
Author(s):  
Pia Hermanns ◽  
Scott Shepherd ◽  
Mohamed Mansor ◽  
John Schulga ◽  
Jez Jones ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Promoter Region ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
New Mutation ◽  
Pax8 Gene

scholarly journals A novel mutation in the PAX8 promoter region causes permanent congenital hypothyroidism in a patient with Down’s Syndrome

2014 ◽  
Vol 1 (Suppl 1) ◽  
pp. A24
Author(s):  
Pia Hermanns ◽  
Sunia Khadouma ◽  
Scott Shepherd ◽  
Mohamed Mansor ◽  
John Schulga ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Promoter Region ◽  
Novel Mutation ◽  
Down's Syndrome ◽  
Down’S Syndrome

Primary correction (PC) versus correction after palliation (CAP) in children with endocardial cushion defects and Down's syndrome (DS)

2004 ◽  
Vol 52 (S 1) ◽  
Author(s):  
A Hakami ◽  
R Cesnjevar ◽  
H Singer ◽  
A Schulz ◽  
A Koch ◽  
...  
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Endocardial Cushion

Down's Syndrome and Psoriasis Vulgaris.

1991 ◽  
Vol 53 (4) ◽  
pp. 680-683 ◽  
Author(s):  
Yoshihiro MAEKAWA ◽  
Hiroshi KATSUKI
Keyword(s):  
Psoriasis Vulgaris ◽  
Down's Syndrome ◽  
Down’S Syndrome

Acute leukemia characterized by trisomy 8 in down's syndrome

Pathology ◽  
1985 ◽  
Vol 17 (1) ◽  
pp. 111-114 ◽  
Author(s):  
Alan F. Broomhead ◽  
Y.L Kwan ◽  
N.A. Zell ◽  
P.R.L. Lam-Po-Tang ◽  
D. O'Gorman Hughes
Keyword(s):  
Acute Leukemia ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Trisomy 8
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