𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion

✍ Scribed by Vermeulen, Stefan ;Messiaen, Ludwine ;Scheir, Petra ;De Bie, Sylvia ;Speleman, Frank ;De Paepe, Anne

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
116 KB
Volume
108
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Review of disrupted sleep patterns in Sm
Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion
✍ Eilis A. Boudreau; Kyle P. Johnson; Angela R. Jackman; Jan Blancato; Marjan Huiz πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 346 KB πŸ‘ 1 views

## Abstract Smith–Magenis syndrome (SMS) is a disorder characterized by multiple congenital anomalies and behavior problems, including abnormal sleep patterns. It is most commonly due to a 3.5 Mb interstitial deletion of chromosome 17 band p11.2. Secretion of melatonin, a hormone produced by the pi

GATA4 haploinsufficiency in patients wit
GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
✍ Pehlivan, Tugce; Pober, Barbara R.; Brueckner, Martina; Garrett, Stacey; Slaugh, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 2 views

Previous studies have shown that patients with deletion of distal human chromosome arm 8p may have congenital heart disease and other physical anomalies. The gene encoding GATA-4, a zinc finger transcription factor implicated in cardiac gene expression and development, localizes to chromosome region