Journal
JOURNAL OF PEDIATRICS
Volume 137, Issue 2, Pages 272-276Publisher
MOSBY-ELSEVIER
DOI: 10.1067/mpd.2000.107111
Keywords
-
Categories
Ask authors/readers for more resources
Thyroid transcription factor-1 encoded by the NKX2.1 gene is a candidate regulator of thyroid and lung morphogenesis and function in humans, We report 2 female siblings with congenital thyroid dysfunction and recurrent acute respiratory distress carrying a heterozygous deletion of chromosome 14q12-13.3, resulting in haploinsufficiency for the NKX2.1 gene. This observation further supports a physiologic mle for thyroid transcription factor-1 in early human thyroid and pulmonary function.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available