𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome

✍ Scribed by Julie M. Gastier; Mary Anne Berg; Per Vesterhus; Edward O. Reiter; Uta Francke

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
423 KB
Volume
16
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Growth hormone deficiency associated in
Growth hormone deficiency associated in the 18q deletion syndrome
✍ Ghidoni, Patricia Davis; Hale, Daniel E.; Cody, Jannine D.; Gay, Charles T.; Tho πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 183 KB πŸ‘ 3 views

The 18q؊ syndrome is one of the commonest deletion syndromes. Clinical characteristics are variable but may include: hypotonia, tapered digits, "carp-like" mouth, mental retardation, and hearing impairment. Growth failure (GF; both weight and height <3%) was reported in 80% of affected individuals.

Hypoplasia of the corpus callosum and gr
Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome
✍ Haeusler, Gabriele ;Frisch, H. ;Guchev, Z. ;Hadziselimovic, F. ;Neuhold, A. ;Vor πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 361 KB πŸ‘ 1 views

A 3-year-old Libyan boy with the XXXXY syndrome is described. MRI examination of the brain showed hypoplasia of the corpus callosum. He had growth retardation and endocrine studies demonstrated growth hormone (GH) deficiency. Derrnatoglyphic pattern was different from previous reports. At histologic

Molecular diagnosis of deletions in the
Molecular diagnosis of deletions in the human multigene complex of growth and placental lactogen hormones
✍ GonzΓ‘lez-RodrΓ­guez, E.; Jaramillo-Rangel, G.; Barrera-SaldaΓ±a, H. A. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 30 KB πŸ‘ 2 views

The type IA of the isolated deficiencies (ID) of growth (HGH) and placental lactogen (HPL) hormones are frequently the consequence of deletions in their respective genes. To facilitate the diagnosis of these cases, we developed a rapid method for detecting deletions of the genes involved based on th