𝔖 Bobbio Scriptorium
✦   LIBER   ✦

X-Linked hypophosphatemia. A phenotype in search of a cause

✍ Scribed by Harriet S. Tenenhouse; Charles R. Scriver

Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
897 KB
Volume
24
Category
Article
ISSN
0020-711X

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

PHEXdb, a locus-specific database for mu
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia
✍ Yves Sabbagh; Andrew O. Jones; Harriet S. Tenenhouse πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 211 KB πŸ‘ 1 views

X-linked hypophosphatemia (XLH) is a dominant disorder of phosphate (Pi) homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in Pi reabsorption and vitamin D metabolism. The gene responsible for XLH was identified by positional

Long-term clinical outcome and carrier p
Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation
✍ Outi MΓ€kitie; Renata C Pereira; Ilkka Kaitila; Serap Turan; Murat Bastepe; Tero πŸ“‚ Article πŸ“… 2010 πŸ› American Society for Bone and Mineral Research 🌐 English βš– 413 KB

Homozygous inactivating mutations in __DMP1__ (__dentin matrix protein 1__), the gene encoding a noncollagenous bone matrix protein expressed in osteoblasts and osteocytes, cause autosomal recessive hypophosphatemia (ARHP). Herein we describe a family with ARHP owing to a novel homozygous __DMP1__ m