ABCMdb

PMID: 17785700

Mushtaq T, Wales JK, Wright NP
Adrenal insufficiency in phytosterolaemia.
Eur J Endocrinol. 2007 Aug;157 Suppl 1:S61-5., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCG5 p.Glu77* This family had mutations in ABCG5 at E77X with affected members being homozygous. Login to comment 85 ABCG5 p.Glu77* All affected individuals in our family have short stature; the family has mutations in ABCG5 at E77X, whereas the most common mutation described is in ABCG8 (4, 6) and it is possible that differences in gene mutations could account for the adrenal abnormalities, but this remains speculative. Login to comment