The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency.
Center for Human Genetics, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH, USA jirair.bedoyan@uhhospitals.org.
Jirair K
JK
Bedoyan
Center for Human Genetics, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH, USA.
Thipwimol
T
Tim-Aroon
Center for Human Genetics Laboratory, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH, USA.
Kristin K
KK
Deeb
Pediatric Neurology, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH, USA.
Sreenath Thati
ST
Ganganna
Pediatric Neurology, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH, USA.
Nancy E
NE
Bass
D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D009133:Muscular Atrophy / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D015997:Neonatal Screening; D013960:Thyroid Function Tests