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Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate

  • E. S. Gillett
    ,
  • G. H. Deutsch
    ,
  • M. J. Bamshad
    ,
  • R. M. Mcadams
    ,
  • P. C. Mann(corresponding author)
*Corresponding author for this work
  • University of Washington
Scholary Output:
Contribution to journal
Article
 Peer-review

Abstract

We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.

Publication Information

Output type

Scholary Output:
Contribution to journal
Article
 Peer-review

Original language

English (US)

Pages from-to (Number of pages)

Pages 157-160 (4 pages)

Journal (Volume, Issue Number)

Journal of Perinatology (Volume 33, Issue 2)

Publication milestones

  • Published - 02/2013

Publication status

Published - 02/2013

ISSN

0743-8346

Publication IDs

  • Scopus: 84873196997
  • PubMed: 23361500

Access to documents

Publication metrics

Metrics

Scopus
citations
12, opens in new tab
SciVal
FWCI
0.80
SciVal
Author count
5
SciVal
citations
6
SciVal
Paper percentile
57
Fractional count
1
Fractional count
0.20
Fractional count
4
Fractional count
0.80
Fractional count
1
Fractional count
1

PlumX, opens in new tab

Captures
12
Citation count
10