All individuals with variants in gene SLC4A1

2 entries on 1 page. Showing entries 1 - 2.
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00000793 Keng E Choo et al.(2006) M Sarawak Iban-Chinese - patient had Southeast Asian ovalocytosis (SAO) - DRTA He was a pale and wasted child weighing 9.4 kg, who was hypotonic and too weak to stand, with a palpable spleen, but no clinical evidence of bone disease. 4 1 Nur Aisyah Athirah
00000794 Keng E Choo et al.(2006) M Sarawak Iban - patients had Southeast Asian ovalocytosis (SAO) - DRTA He had frequent episodes skin sepsis associated with scabies. At the age of 10.5 years, hepatosplenomegaly was still present and his sclerae were slightly icteric. Although there was no clinical evidence of bone disease and acidosis was corrected, growth was still markedly retarded. 3 1 Nur Aisyah Athirah
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