Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules-Reference-Cited by-同舟云学术

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Published:2019-12-12 Issue:2 Volume:97 Page:264-275
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Castellanos Elisabeth¹,Rosas Inma¹,Negro Alex¹,Gel Bernat¹,Alibés Andreu²,Baena Neus³,Pineda Mercè⁴,Pi Graciela⁵,Pintos Guillem⁶,Salvador Hector⁷,Lázaro Conxi⁸⁹,Blanco Ignacio¹⁰,Vilageliu Lluïsa¹¹,Brems Hilde¹²,Grinberg Daniel¹¹,Legius Eric¹²,Serra Eduard¹⁹^ORCID

Affiliation:

1. Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC)Germans Trias & Pujol Research Institute (IGTP) Barcelona Spain

2. Cancer Genetics and Epigenetics GroupProgram of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias & Pujol Research Institute (IGTP) Barcelona Spain

3. Genetics Laboratory of the UDIAT‐CDParc Tauli Health Corporation Barcelona Spain

4. Neuropaediatrics UnitHospital Sant Joan de Déu Barcelona Spain

5. Neuropaediatrics UnitLa Ribera Hospital Valencia Spain

6. Department of PediatricsGermans Trias i Pujol University Hospital and Research Institute (IGTP), Universitat de Barcelona Barcelona Spain

7. Paediatrics Oncology UnitHospital Sant Joan de Déu Barcelona Spain

8. Hereditary Cancer ProgramCatalan Institute of Oncology (ICO‐IDIBELL‐ONCOBELL), L'Hospitalet de Llobregat Barcelona Spain

9. Centro de Investigación Biomédica en RED (CIBERONC)Instituto de Salud Carlos III Madrid Spain

10. Clinical Genetics and Genetic Counseling ProgramGermans Trias i Pujol Hospital Barcelona Spain

11. Department of Genetics, Microbiology and Statistics, Facultat de BiologiaUniversitat de Barcelona (UB), IBUB, IRSJD, CIBERER Barcelona Spain

12. Laboratory for Neurofibromatosis Research, Department of Human GeneticsKU Leuven University Hospital Leuven Belgium

Funder

Departament d'Universitats, Recerca i Societat de la Informació

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13649

Reference48 articles.

1. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

2. Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children

3. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

4. The Diagnostic and Clinical Significance of Café-au-lait Macules

5. Prevalence of Café-au-Lait Spots in children with solid tumors

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