ea0024oc2.6 | Oral Communications 2 (Brief Communications) | BSPED2010
Cangul H
, Aycan Z
, Saglam H
, Yakut T
, Karkucak M
, Bas V
, Eren E
, Yuca S
, Demir K
, Cetinkaya S
, Kirby G A
, Morgan N V
, Forman J R
, Tarim O
, Bober E
, Cesur Y
, Kendall M
, Hogler W
, Barrett T G
, Maher E R
Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...