WordNet

relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
severe hypothyroidism resulting in physical and mental stunting

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Ma SG1, Qiu YL2, Zhu H3, Liu H1, Li Q1, Ji CM1.
Scandinavian journal of clinical and laboratory investigation.Scand J Clin Lab Invest.2015 Dec;75(8):633-7. doi: 10.3109/00365513.2015.1055789. Epub 2015 Jul 15.
BACKGROUND: Mutations in the dual oxidase maturation factor 2 (DUOXA2) and thyroid peroxidase (TPO) genes have been reported to cause goitrous congenital hypothyroidism (GCH). The aim of this study was to determine the genetic basis of GCH in affected children.METHODS: Thirty children with GCH were
PMID 26174974

Dimitri P1, Habeb AM1, Garbuz F1, Millward A1, Wallis S1, Moussa K1, Akcay T1, Taha D1, Hogue J1, Slavotinek A1, Wales JK1, Shetty A1, Hawkes D1, Hattersley AT1, Ellard S1, De Franco E1.
The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2015 Oct;100(10):E1362-9. doi: 10.1210/jc.2015-1827. Epub 2015 Aug 10.
CONTEXT: GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 muta
PMID 26259131

Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.

Nicola JP1, Reyna-Neyra A1, Saenger P1, Rodriguez-Buritica DF1, Gamez Godoy JD1, Muzumdar R1, Amzel LM1, Carrasco N1.
The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2015 Oct;100(10):E1353-61. doi: 10.1210/jc.2015-1824. Epub 2015 Jul 23.
CONTEXT: Iodide (I(-)), an essential constituent of the thyroid hormones, is actively accumulated in the thyroid by the Na(+)/I(-) symporter (NIS), a key plasma membrane protein encoded by the slc5a5 gene. Mutations in slc5a5 cause I(-) transport defects (ITDs), autosomal-recessive disorders in whic
PMID 26204134

An improved assay method for thyroid peroxidase applicable for a few milligrams of abnormal human thyroid tissues.

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The Journal of Biochemistry 98(3), 637-647, 1985
… One specimen (goitrous cretinism) showed no peroxidase activity in both the guaiacol and iodide assays, and three specimens (two chronic thyroiditis, one familial nontoxic goiter) possessed no ability to catalyze the oxidation of iodide in spite of the high reactivity towards guaiacol, suggesting the presence of an abnormal peroxidase in these tissues. …
NAID 130003543430