Borges, Maria de Fátima <br/><br/>
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.  [electronic resource] 

 -  Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo  2019 
 - 520-524 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1984-0462 
<br/><br/><label>Standard No.: </label>10.1590/1984-0462/;2019;37;4;00017  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child<br/>Congenital Hypothyroidism--diagnosis<br/>Delayed Diagnosis<br/>Female<br/>Genetic Markers<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Mutation<br/>Neonatal Screening<br/>Thyrotropin, beta Subunit--genetics