Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation.

× No keyword cloud information.

4 in total

Review 1. Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.

Authors: D Ovejero; Y H Lim; A M Boyce; R I Gafni; E McCarthy; T A Nguyen; L F Eichenfield; C M C DeKlotz; L C Guthrie; L L Tosi; P S Thornton; K A Choate; M T Collins
Journal: Osteoporos Int Date: 2016-08-06 Impact factor: 4.507

2. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Authors: Young H Lim; Diana Ovejero; Jeffrey S Sugarman; Cynthia M C Deklotz; Ann Maruri; Lawrence F Eichenfield; Patrick K Kelley; Harald Jüppner; Michael Gottschalk; Cynthia J Tifft; Rachel I Gafni; Alison M Boyce; Edward W Cowen; Nisan Bhattacharyya; Lori C Guthrie; William A Gahl; Gretchen Golas; Erin C Loring; John D Overton; Shrikant M Mane; Richard P Lifton; Moise L Levy; Michael T Collins; Keith A Choate
Journal: Hum Mol Genet Date: 2013-09-04 Impact factor: 6.150

Review 3. Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy.

Authors: Young H Lim; Diana Ovejero; Kristina M Derrick; Michael T Collins; Keith A Choate
Journal: J Am Acad Dermatol Date: 2016-08 Impact factor: 11.527

4. Matrix extracellular phosphoglycoprotein (MEPE) correlates with serum phosphorus prior to and during octreotide treatment and following excisional surgery in hypophosphatemic linear sebaceous nevus syndrome.

Authors: William H Hoffman; Alka Jain; Harold Chen; Neal S Fedarko
Journal: Am J Med Genet A Date: 2008-08-15 Impact factor: 2.802

4 in total