New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening.
Ramos, Helton E
New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening. [electronic resource] - Thyroid : official journal of the American Thyroid Association Jun 2010 - 639-45 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1557-9077
10.1089/thy.2009.0462 doi
Congenital Hypothyroidism--genetics
Consanguinity
Diagnostic Errors
Female
Homozygote
Humans
Infant
Infant, Newborn
Neonatal Screening
Pedigree
Thyrotropin--analysis
Thyrotropin, beta Subunit--genetics
New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening. [electronic resource] - Thyroid : official journal of the American Thyroid Association Jun 2010 - 639-45 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1557-9077
10.1089/thy.2009.0462 doi
Congenital Hypothyroidism--genetics
Consanguinity
Diagnostic Errors
Female
Homozygote
Humans
Infant
Infant, Newborn
Neonatal Screening
Pedigree
Thyrotropin--analysis
Thyrotropin, beta Subunit--genetics