Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
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Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma PapilliferumOsteocyte-specific deletion of Fgfr1 suppresses FGF23Melanoma in congenital melanocytic naevi.Therapeutic management of hypophosphatemic rickets from infancy to adulthood.Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.1,25-Dihydroxyvitamin D as Monotherapy for XLH: Back to the Future?Stability and degradation of fibroblast growth factor 23 (FGF23): the effect of time and temperature and assay type.Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathyCutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics.Tumour-induced osteomalacia.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Somatic Mutations in NEK9 Cause Nevus Comedonicus.RAS in FGF23: another piece in the puzzle.Epidermal nevus syndromes: New insights into whorls and swirls.Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review.Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review.Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets.Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.[Genetic basis of seborrheic keratosis and epidermal nevi].Targeting Fibroblast Growth Factor 23 Signaling with Antibodies and Inhibitors, Is There a Rationale?
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P2860
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 04 September 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.
@en
Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.
@nl
type
label
Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.
@en
Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.
@nl
prefLabel
Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.
@en
Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.
@nl
P2093
P2860
P356
P1476
Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.
@en
P2093
Alison M Boyce
Ann Maruri
Cynthia J Tifft
Cynthia M C Deklotz
Edward W Cowen
Erin C Loring
Gretchen Golas
Harald Jüppner
Jeffrey S Sugarman
John D Overton
P2860
P304
P356
10.1093/HMG/DDT429
P577
2013-09-04T00:00:00Z