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A novel loss-of-function mutation inOTX2in a patient with anophthalmia and isolated growth hormone deficiency

✍ Scribed by Liat Ashkenazi-Hoffnung; Yael Lebenthal; Alexander W. Wyatt; Nicola K. Ragge; Sumito Dateki; Maki Fukami; Tsutomu Ogata; Moshe Phillip; Galia Gat-Yablonski


Publisher
Springer
Year
2010
Tongue
English
Weight
440 KB
Volume
127
Category
Article
ISSN
0340-6717

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Two novel CYP21A2 missense mutations in
✍ Paola Concolino; Francesca Vendittelli; Enrica Mello; Cristiana Carelli Alinovi; πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 225 KB

## Abstract Steroid 21‐hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17‐hydroxyp