MMP2 and congenital hypothyroidism: Among these 101 patients, they identified two homozygous missense variants involving TPO [NM_000547.4: c.1994G > A, p.(Arg665Glu)] and MMP2 [NM_004530.4: c.539 A > T, p.(Asp180Val)] in an individual with reported features of congenital hypothyroidism, multiple joint swellings and contractures, skin anomalies including brown skin pigmentation on side of abdomen and right upper arm, and hypospadias.