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Syndromic hypothyroidism
- ... are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain- ... been as well characterized can also cause congenital hypothyroidism. Still other genes are involved in syndromic forms of the disorder. DUOX2 PAX8 SLC26A4 SLC5A5 ...
- ... of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and ... in PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3): ...