✦ LIBER ✦

Virilism as a late manifestation in the Bardet-Biedl syndrome

✍ Scribed by Haning, Ray V. ;Carlson, Ian H. ;Gilbert, Enid F. ;Shapiro, Sander S. ;Opitz, John M. ;Karp, Laurence E.

Publisher: John Wiley and Sons
Year: 1980
Tongue: English
Weight: 986 KB
Volume: 7
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320070306

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hydrometrocolpos as a neonatal manifesta

Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome

✍ Mehrotra, Naveen; Taub, Susan; Covert, Robert F. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 2 views

Hepatic involvement in the Bardet-Biedl

Hepatic involvement in the Bardet-Biedl syndrome

✍ Pagon, Roberta A. ;Haas, Joel E. ;Bunt, Ann H. ;Rodaway, Keith A. ;Opitz, John M 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 630 KB

Clinical evidence of decreased olfaction

Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene

✍ Alessandro Iannaccone; Kirk Mykytyn; Antonio M. Persico; Charles C. Searby; Alfo 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 2 views

BBS7 and TTC8 (BBS8) mutations play a mi

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

✍ Jenea Bin; Jagadeesan Madhavan; Walter Ferrini; Calvin A. Mok; Gail Billingsley; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 247 KB

Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7 and TTC8 in 35 BBS families of diverse ancestral b

Acute leg ischaemia as a manifestation o

Acute leg ischaemia as a manifestation of the hyperleukocytosis syndrome in acute myeloid leukaemia

✍ Janine Campbell; Christina A. Mitchell 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 2 views