Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.
Esposito
G
G
De Falco
F
F
Brazzelli
V
V
Montanari
L
L
Larizza
D
D
Salvatore
F
F
D002675:Child, Preschool; D018389:Codon, Nonsense; D003409:Congenital Hypothyroidism / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index; D011503:Transglutaminases / Q000235:genetics*; D014416:Tunisia
D018389:Codon, Nonsense; D011503:Transglutaminases; C105804:transglutaminase 1