Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in oneCYP11B1allele and R448H in exon 8 in the other

✍ Scribed by Katja Dumic; Robert Wilson; Pavinee Thanasawat; Zorana Grubic; Vesna Kusec; Katarina Stingl; Maria I. New

• Book ID: 106121943
• Publisher: Springer
• Year: 2009
• Tongue: English
• Weight: 172 KB
• Volume: 169
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/s00431-009-1110-1