MosaicNRASQ61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets-Reference-Cited by-同舟云学术

MosaicNRASQ61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets

Published:2016-11-30 Issue:1 Volume:42 Page:75-79
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Ramesh R.¹²,Shaw N.³,Miles E. K.⁴,Richard B.⁵,Colmenero I.⁶,Moss C.²⁷

Affiliation:

1. Birmingham Skin Centre; Sandwell and West Birmingham Hospitals NHS Trust; Birmingham UK

2. Department of Paediatric Dermatology; Birmingham Children’s Hospital NHS Foundation Trust; Birmingham UK

3. Department of Paediatric Endocrinology; Birmingham Children’s Hospital NHS Foundation Trust; Birmingham UK

4. Department of Genomic Medicine; Central Manchester University Hospitals NHS Foundation Trust; Manchester UK

5. Department of Plastic Surgery; Birmingham Children’s Hospital NHS Foundation Trust; Birmingham UK

6. Department of Histopathology; Birmingham Children’s Hospital NHS Foundation Trust; Birmingham UK

7. University of Birmingham; Birmingham UK

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12969/fullpdf

Reference11 articles.

1. Online Mendelian Inheritance in Man, OMIM ® McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) http://www.omim.org/

2. Epidermal, sebaceous, and melanocytic nevoid proliferations are spectrums of mosaic RASopathies;Luo;J Invest Dermatol,2014

3. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia;Lim;Hum Mol Genet,2014

4. Ras in FGF23: another piece in the puzzle;Overjero;J Clin Endocrinol Metab,2014

5. Hypothesis: vascular twin naevi and somatic recombination in man;Happle;Lancet,1990

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